Christine Kilgore

Updated guidelines on evaluating and treating girls and women with Turner syndrome advise against the practice of delaying puberty to increase height and emphasize the importance of early diagnosis, estrogen treatment, and more comprehensive cardiovascular evaluation—including the use of diagnostic MRI—than is typically done today.

The guidelines detail how children should be evaluated and cared for and clearly state that care for adults is falling short.

“The care of adults with TS has received less attention than [has] the treatment of children, and many seem to be falling through the cracks with inadequate cardiovascular evaluation and estrogen treatment,” say the new guidelines from the international, multidisciplinary Turner Syndrome Consensus Study Group, published in the Journal of Clinical Endocrinology & Metabolism.

On the other hand, while medical care must be improved and while many questions about care “remain unanswered,” the experts “realize now that we have a lot more well-functioning people with TS,” Dr. Carolyn A. Bondy said in an interview.

Dr. Bondy, chief of the developmental endocrinology branch at the National Institute of Child Health and Human Development in Bethesda, Md., chaired the consensus conference and guideline-writing committee for the consensus group, which met last summer to update recommendations issued in 2001.

The guidelines mainly represent “consensus judgments” rather than evidence-based conclusions, the committee noted in its document.

The clinical spectrum of TS is “much broader and often less severe than that described in many textbooks”—a finding that seems at odds with a “high elective abortion rate for incidentally diagnosed 45,X and 45,X/mosaic fetuses,” the guidelines say. This means that the content of prenatal counseling “needs updating” with the input of TS patient and parent groups, the document says.

That's especially true now that the American College of Obstetricians and Gynecologists is recommending that all women, regardless of their age, be offered screening for Down syndrome.

Parents who receive a Turner syndrome diagnosis from such screening (TS can be an incidental finding) must be given information about the broad phenotypic spectrum of the syndrome and the high quality of life for many patients, Dr. Brody said.

Recent reports of an often-normal quality of life for those receiving comprehensive medical care should encourage—not mitigate—the efforts of physicians to diagnose TS as early as possible and better appreciate its many consequences, she said.

The diagnosis should be considered in any female with unexplained growth failure or pubertal delay or any constellation of the syndrome's characteristic physical features, the guidelines say.

“Regrettably, late diagnosis of TS, even in adults, is still a problem. No matter what the age of the patient, a full workup with assessment of congenital malformations should be performed, including all screening tests recommended for younger patients,” the document says.

Adults with TS should then be regularly screened for hypertension, diabetes, dyslipidemia, aortic enlargement, hearing loss, osteoporosis, and thyroid and celiac diseases (J. Clin. Endocrinol. Metab. 2007;92:10–25).

The guidelines offer age-specific suggestions for ovarian hormone replacement and say that “ideally, natural estradiol and progesterone, rather than analogs, should be delivered by transdermal or transmembranous routes so as to mimic age-appropriate physiological patterns as closely as possible.”

Regimens can vary to meet individuals' tolerance and preference, however, and “the most important consideration is that women actually take ovarian hormone replacement,” the authors say.

Without it, the risk of significant osteoporosis is high. “These women can have severe osteoporosis at 25,” said Dr. Bondy. “I have a 30-year-old patient who has lost 2 inches of height and has a hump.”

Estrogen therapy often is required to induce pubertal development (30% or more will undergo some spontaneous pubertal development), but experts used to recommend delaying estrogen therapy until age 15 to optimize height potential.

Today, Dr. Bondy said, the consensus is that such delay undervalues the psychosocial importance of age-appropriate puberty.

Recent evidence also suggests that low-dose estrogen does not inhibit growth hormone-enhanced increases in stature. “There's a new focus on natural, sensitive, and timely puberty induction,” she commented.

Recent studies have also suggested a broader spectrum of cardiovascular abnormalities than were previously recognized, and the consensus group agreed to bring “the heart to the forefront,” Dr. Bondy said. “There's a new emphasis [in the guidelines] on the fact that everyone needs cardiovascular screening—from the newborn to the woman who's 20 and just found out she's infertile [and has TS] to the woman who's 40 and just got the [TS] diagnosis.”

And while echocardiography usually is adequate for screening infants and young girls, MRI also must be performed in older girls and adults.

Reports of fatal aortic dissection during pregnancy and the postpartum period have raised concern about the safety of pregnancy in TS, and “preconception assessment must include cardiology evaluation with MRI of the aorta,” the experts say.

Updated guidelines on evaluating and treating girls and women with Turner syndrome advise against the practice of delaying puberty to increase height and emphasize the importance of early diagnosis, estrogen treatment, and more comprehensive cardiovascular evaluation—including the use of diagnostic MRI—than is typically done today.

The guidelines detail how children should be evaluated and cared for and clearly state that care for adults is falling short.

“The care of adults with TS has received less attention than [has] the treatment of children, and many seem to be falling through the cracks with inadequate cardiovascular evaluation and estrogen treatment,” say the new guidelines from the international, multidisciplinary Turner Syndrome Consensus Study Group, published in the Journal of Clinical Endocrinology & Metabolism.

On the other hand, while medical care must be improved and while many questions about care “remain unanswered,” the experts “realize now that we have a lot more well-functioning people with TS,” Dr. Carolyn A. Bondy said in an interview.

Dr. Bondy, chief of the developmental endocrinology branch at the National Institute of Child Health and Human Development in Bethesda, Md., chaired the consensus conference and guideline-writing committee for the consensus group, which met last summer to update recommendations issued in 2001.

The guidelines mainly represent “consensus judgments” rather than evidence-based conclusions, the committee noted in its document.

The clinical spectrum of TS is “much broader and often less severe than that described in many textbooks”—a finding that seems at odds with a “high elective abortion rate for incidentally diagnosed 45,X and 45,X/mosaic fetuses,” the guidelines say. This means that the content of prenatal counseling “needs updating” with the input of TS patient and parent groups, the document says.

That's especially true now that the American College of Obstetricians and Gynecologists is recommending that all women, regardless of their age, be offered screening for Down syndrome.

Parents who receive a Turner syndrome diagnosis from such screening (TS can be an incidental finding) must be given information about the broad phenotypic spectrum of the syndrome and the high quality of life for many patients, Dr. Brody said.

Recent reports of an often-normal quality of life for those receiving comprehensive medical care should encourage—not mitigate—the efforts of physicians to diagnose TS as early as possible and better appreciate its many consequences, she said.

The diagnosis should be considered in any female with unexplained growth failure or pubertal delay or any constellation of the syndrome's characteristic physical features, the guidelines say.

“Regrettably, late diagnosis of TS, even in adults, is still a problem. No matter what the age of the patient, a full workup with assessment of congenital malformations should be performed, including all screening tests recommended for younger patients,” the document says.

Adults with TS should then be regularly screened for hypertension, diabetes, dyslipidemia, aortic enlargement, hearing loss, osteoporosis, and thyroid and celiac diseases (J. Clin. Endocrinol. Metab. 2007;92:10–25).

The guidelines offer age-specific suggestions for ovarian hormone replacement and say that “ideally, natural estradiol and progesterone, rather than analogs, should be delivered by transdermal or transmembranous routes so as to mimic age-appropriate physiological patterns as closely as possible.”

Regimens can vary to meet individuals' tolerance and preference, however, and “the most important consideration is that women actually take ovarian hormone replacement,” the authors say.

Without it, the risk of significant osteoporosis is high. “These women can have severe osteoporosis at 25,” said Dr. Bondy. “I have a 30-year-old patient who has lost 2 inches of height and has a hump.”

Estrogen therapy often is required to induce pubertal development (30% or more will undergo some spontaneous pubertal development), but experts used to recommend delaying estrogen therapy until age 15 to optimize height potential.

Today, Dr. Bondy said, the consensus is that such delay undervalues the psychosocial importance of age-appropriate puberty.

Recent evidence also suggests that low-dose estrogen does not inhibit growth hormone-enhanced increases in stature. “There's a new focus on natural, sensitive, and timely puberty induction,” she commented.

Recent studies have also suggested a broader spectrum of cardiovascular abnormalities than were previously recognized, and the consensus group agreed to bring “the heart to the forefront,” Dr. Bondy said. “There's a new emphasis [in the guidelines] on the fact that everyone needs cardiovascular screening—from the newborn to the woman who's 20 and just found out she's infertile [and has TS] to the woman who's 40 and just got the [TS] diagnosis.”

And while echocardiography usually is adequate for screening infants and young girls, MRI also must be performed in older girls and adults.

Reports of fatal aortic dissection during pregnancy and the postpartum period have raised concern about the safety of pregnancy in TS, and “preconception assessment must include cardiology evaluation with MRI of the aorta,” the experts say.

Updated guidelines on evaluating and treating girls and women with Turner syndrome advise against the practice of delaying puberty to increase height and emphasize the importance of early diagnosis, estrogen treatment, and more comprehensive cardiovascular evaluation—including the use of diagnostic MRI—than is typically done today.

The guidelines detail how children should be evaluated and cared for and clearly state that care for adults is falling short.

“The care of adults with TS has received less attention than [has] the treatment of children, and many seem to be falling through the cracks with inadequate cardiovascular evaluation and estrogen treatment,” say the new guidelines from the international, multidisciplinary Turner Syndrome Consensus Study Group, published in the Journal of Clinical Endocrinology & Metabolism.

On the other hand, while medical care must be improved and while many questions about care “remain unanswered,” the experts “realize now that we have a lot more well-functioning people with TS,” Dr. Carolyn A. Bondy said in an interview.

Dr. Bondy, chief of the developmental endocrinology branch at the National Institute of Child Health and Human Development in Bethesda, Md., chaired the consensus conference and guideline-writing committee for the consensus group, which met last summer to update recommendations issued in 2001.

The guidelines mainly represent “consensus judgments” rather than evidence-based conclusions, the committee noted in its document.

The clinical spectrum of TS is “much broader and often less severe than that described in many textbooks”—a finding that seems at odds with a “high elective abortion rate for incidentally diagnosed 45,X and 45,X/mosaic fetuses,” the guidelines say. This means that the content of prenatal counseling “needs updating” with the input of TS patient and parent groups, the document says.

That's especially true now that the American College of Obstetricians and Gynecologists is recommending that all women, regardless of their age, be offered screening for Down syndrome.

Parents who receive a Turner syndrome diagnosis from such screening (TS can be an incidental finding) must be given information about the broad phenotypic spectrum of the syndrome and the high quality of life for many patients, Dr. Brody said.

Recent reports of an often-normal quality of life for those receiving comprehensive medical care should encourage—not mitigate—the efforts of physicians to diagnose TS as early as possible and better appreciate its many consequences, she said.

The diagnosis should be considered in any female with unexplained growth failure or pubertal delay or any constellation of the syndrome's characteristic physical features, the guidelines say.

“Regrettably, late diagnosis of TS, even in adults, is still a problem. No matter what the age of the patient, a full workup with assessment of congenital malformations should be performed, including all screening tests recommended for younger patients,” the document says.

Adults with TS should then be regularly screened for hypertension, diabetes, dyslipidemia, aortic enlargement, hearing loss, osteoporosis, and thyroid and celiac diseases (J. Clin. Endocrinol. Metab. 2007;92:10–25).

The guidelines offer age-specific suggestions for ovarian hormone replacement and say that “ideally, natural estradiol and progesterone, rather than analogs, should be delivered by transdermal or transmembranous routes so as to mimic age-appropriate physiological patterns as closely as possible.”

Regimens can vary to meet individuals' tolerance and preference, however, and “the most important consideration is that women actually take ovarian hormone replacement,” the authors say.

Without it, the risk of significant osteoporosis is high. “These women can have severe osteoporosis at 25,” said Dr. Bondy. “I have a 30-year-old patient who has lost 2 inches of height and has a hump.”

Estrogen therapy often is required to induce pubertal development (30% or more will undergo some spontaneous pubertal development), but experts used to recommend delaying estrogen therapy until age 15 to optimize height potential.

Today, Dr. Bondy said, the consensus is that such delay undervalues the psychosocial importance of age-appropriate puberty.

Recent evidence also suggests that low-dose estrogen does not inhibit growth hormone-enhanced increases in stature. “There's a new focus on natural, sensitive, and timely puberty induction,” she commented.

Recent studies have also suggested a broader spectrum of cardiovascular abnormalities than were previously recognized, and the consensus group agreed to bring “the heart to the forefront,” Dr. Bondy said. “There's a new emphasis [in the guidelines] on the fact that everyone needs cardiovascular screening—from the newborn to the woman who's 20 and just found out she's infertile [and has TS] to the woman who's 40 and just got the [TS] diagnosis.”

And while echocardiography usually is adequate for screening infants and young girls, MRI also must be performed in older girls and adults.

Reports of fatal aortic dissection during pregnancy and the postpartum period have raised concern about the safety of pregnancy in TS, and “preconception assessment must include cardiology evaluation with MRI of the aorta,” the experts say.

Updated guidelines on evaluating and treating girls and women with Turner syndrome advise against the practice of delaying puberty to increase height and emphasize the importance of early diagnosis, estrogen treatment, and more comprehensive cardiovascular evaluation—including the use of diagnostic MRI—than is typically done today.

Although the guidelines from the international, multidisciplinary Turner Syndrome Consensus Study Group detail how children should be evaluated and cared for—emphasizing, for example, the importance of comprehensive educational evaluation in early childhood—the experts also clearly state that care for adults is more often falling short.

“The care of adults with [Turner syndrome] has received less attention than [has] the treatment of children, and many seem to be falling through the cracks with inadequate cardiovascular evaluation and estrogen treatment,” say the new guidelines, published in the Journal of Clinical Endocrinology and Metabolism.

On the other hand, while medical care must be improved and while many questions about care “remain unanswered,” the experts “realize now that we have a lot more well-functioning people with [Turner syndrome],” Dr. Carolyn A. Bondy said in an interview.

Dr. Bondy, chief of the developmental endocrinology branch at the National Institute of Child Health and Human Development in Bethesda, Md., chaired the consensus conference and guideline-writing committee for the consensus group, which met last summer to update the old recommendations, first issued in 2001. The guidelines mainly represent “consensus judgments” rather than evidence-based conclusions, the committee noted in its document.

The clinical spectrum of Turner syndrome is “much broader and often less severe than that described in many textbooks”—a finding that seems at odds with a “high elective abortion rate for incidentally diagnosed 45,X and 45,X/mosaic fetuses,” the guidelines say. This means that the content of prenatal counseling “needs updating” with the input of Turner syndrome patient and parent groups, the document says.

That's especially true now that the American College of Obstetricians and Gynecologists is recommending that all women, regardless of their age, be offered screening for Down syndrome. Parents who receive a Turner syndrome diagnosis from such screening (Turner syndrome can be an incidental finding) must be given information about the broad phenotypic spectrum of the syndrome and the high quality of life for many patients, Dr. Brody said.

Recent reports of an often-normal quality of life for those receiving comprehensive medical care should encourage—not mitigate—the efforts of physicians to diagnose Turner syndrome as early as possible and better appreciate its many consequences, she said.

The diagnosis should be considered in any female with unexplained growth failure or pubertal delay or any constellation of the syndrome's characteristic physical features, the guidelines say.

“Regrettably, late diagnosis of Turner syndrome, even in adults, is still a problem. No matter what the age of the patient, a full work-up with assessment of congenital malformations should be performed, including all screening tests recommended for younger patients,” the document says.

Adults with Turner syndrome should then be regularly screened for hypertension, diabetes, dyslipidemia, aortic enlargement, hearing loss, osteoporosis, and thyroid and celiac diseases (J. Clin. Endocrinol. Metab. 2007:92:10–25).

The guidelines offer age-specific suggestions for ovarian hormone replacement and say that “ideally, natural estradiol and progesterone, rather than analogs, should be delivered by transdermal or transmembranous routes so as to mimic age-appropriate physiological patterns as closely as possible.”

Regimens can vary to meet individuals' tolerance and preference, however, and “the most important consideration is that women actually take ovarian hormone replacement,” the authors say.

Without it, the risk of significant osteoporosis is high. “These women can have severe osteoporosis at 25,” said Dr. Bondy. “I have a 30-year-old patient who has lost 2 inches of height and has a hump.”

Estrogen therapy often is required to induce pubertal development (30% or more will undergo some spontaneous pubertal development), but experts used to recommend delaying estrogen therapy until age 15 to optimize height potential.

The current consensus is that such delay undervalues the psychosocial importance of age-appropriate puberty. Recent evidence also suggests that low-dose estrogen does not inhibit growth hormone-enhanced increases in stature, said Dr. Bondy.

“There's a new focus on natural, sensitive, and timely puberty induction,” she said.

Recent studies have also suggested a broader spectrum of cardiovascular abnormalities than was previously recognized, and the consensus group agreed to bring “the heart to the forefront,” Dr. Bondy said.

“There's a new emphasis [in the guidelines] on the fact that everyone needs cardiovascular screening—from the newborn to the woman who's 20 and just found out she's infertile [and has Turner syndrome] to the woman who's 40 and just got the [Turner syndrome] diagnosis,” commented Dr. Bondy.

And while echocardiography usually is adequate for screening infants and young girls, MRI also must be performed in older girls and adults.

Reports of fatal aortic dissection during pregnancy and the postpartum period have raised concern about the safety of pregnancy in Turner syndrome, and “preconception assessment must include cardiology evaluation with MRI of the aorta,” the experts say.

Updated guidelines on evaluating and treating girls and women with Turner syndrome advise against the practice of delaying puberty to increase height and emphasize the importance of early diagnosis, estrogen treatment, and more comprehensive cardiovascular evaluation—including the use of diagnostic MRI—than is typically done today.

Although the guidelines from the international, multidisciplinary Turner Syndrome Consensus Study Group detail how children should be evaluated and cared for—emphasizing, for example, the importance of comprehensive educational evaluation in early childhood—the experts also clearly state that care for adults is more often falling short.

“The care of adults with [Turner syndrome] has received less attention than [has] the treatment of children, and many seem to be falling through the cracks with inadequate cardiovascular evaluation and estrogen treatment,” say the new guidelines, published in the Journal of Clinical Endocrinology and Metabolism.

On the other hand, while medical care must be improved and while many questions about care “remain unanswered,” the experts “realize now that we have a lot more well-functioning people with [Turner syndrome],” Dr. Carolyn A. Bondy said in an interview.

Dr. Bondy, chief of the developmental endocrinology branch at the National Institute of Child Health and Human Development in Bethesda, Md., chaired the consensus conference and guideline-writing committee for the consensus group, which met last summer to update the old recommendations, first issued in 2001. The guidelines mainly represent “consensus judgments” rather than evidence-based conclusions, the committee noted in its document.

The clinical spectrum of Turner syndrome is “much broader and often less severe than that described in many textbooks”—a finding that seems at odds with a “high elective abortion rate for incidentally diagnosed 45,X and 45,X/mosaic fetuses,” the guidelines say. This means that the content of prenatal counseling “needs updating” with the input of Turner syndrome patient and parent groups, the document says.

That's especially true now that the American College of Obstetricians and Gynecologists is recommending that all women, regardless of their age, be offered screening for Down syndrome. Parents who receive a Turner syndrome diagnosis from such screening (Turner syndrome can be an incidental finding) must be given information about the broad phenotypic spectrum of the syndrome and the high quality of life for many patients, Dr. Brody said.

Recent reports of an often-normal quality of life for those receiving comprehensive medical care should encourage—not mitigate—the efforts of physicians to diagnose Turner syndrome as early as possible and better appreciate its many consequences, she said.

The diagnosis should be considered in any female with unexplained growth failure or pubertal delay or any constellation of the syndrome's characteristic physical features, the guidelines say.

“Regrettably, late diagnosis of Turner syndrome, even in adults, is still a problem. No matter what the age of the patient, a full work-up with assessment of congenital malformations should be performed, including all screening tests recommended for younger patients,” the document says.

Adults with Turner syndrome should then be regularly screened for hypertension, diabetes, dyslipidemia, aortic enlargement, hearing loss, osteoporosis, and thyroid and celiac diseases (J. Clin. Endocrinol. Metab. 2007:92:10–25).

The guidelines offer age-specific suggestions for ovarian hormone replacement and say that “ideally, natural estradiol and progesterone, rather than analogs, should be delivered by transdermal or transmembranous routes so as to mimic age-appropriate physiological patterns as closely as possible.”

Regimens can vary to meet individuals' tolerance and preference, however, and “the most important consideration is that women actually take ovarian hormone replacement,” the authors say.

Without it, the risk of significant osteoporosis is high. “These women can have severe osteoporosis at 25,” said Dr. Bondy. “I have a 30-year-old patient who has lost 2 inches of height and has a hump.”

Estrogen therapy often is required to induce pubertal development (30% or more will undergo some spontaneous pubertal development), but experts used to recommend delaying estrogen therapy until age 15 to optimize height potential.

The current consensus is that such delay undervalues the psychosocial importance of age-appropriate puberty. Recent evidence also suggests that low-dose estrogen does not inhibit growth hormone-enhanced increases in stature, said Dr. Bondy.

“There's a new focus on natural, sensitive, and timely puberty induction,” she said.

Recent studies have also suggested a broader spectrum of cardiovascular abnormalities than was previously recognized, and the consensus group agreed to bring “the heart to the forefront,” Dr. Bondy said.

“There's a new emphasis [in the guidelines] on the fact that everyone needs cardiovascular screening—from the newborn to the woman who's 20 and just found out she's infertile [and has Turner syndrome] to the woman who's 40 and just got the [Turner syndrome] diagnosis,” commented Dr. Bondy.

And while echocardiography usually is adequate for screening infants and young girls, MRI also must be performed in older girls and adults.

Reports of fatal aortic dissection during pregnancy and the postpartum period have raised concern about the safety of pregnancy in Turner syndrome, and “preconception assessment must include cardiology evaluation with MRI of the aorta,” the experts say.

Updated guidelines on evaluating and treating girls and women with Turner syndrome advise against the practice of delaying puberty to increase height and emphasize the importance of early diagnosis, estrogen treatment, and more comprehensive cardiovascular evaluation—including the use of diagnostic MRI—than is typically done today.

Although the guidelines from the international, multidisciplinary Turner Syndrome Consensus Study Group detail how children should be evaluated and cared for—emphasizing, for example, the importance of comprehensive educational evaluation in early childhood—the experts also clearly state that care for adults is more often falling short.

“The care of adults with [Turner syndrome] has received less attention than [has] the treatment of children, and many seem to be falling through the cracks with inadequate cardiovascular evaluation and estrogen treatment,” say the new guidelines, published in the Journal of Clinical Endocrinology and Metabolism.

On the other hand, while medical care must be improved and while many questions about care “remain unanswered,” the experts “realize now that we have a lot more well-functioning people with [Turner syndrome],” Dr. Carolyn A. Bondy said in an interview.

Dr. Bondy, chief of the developmental endocrinology branch at the National Institute of Child Health and Human Development in Bethesda, Md., chaired the consensus conference and guideline-writing committee for the consensus group, which met last summer to update the old recommendations, first issued in 2001. The guidelines mainly represent “consensus judgments” rather than evidence-based conclusions, the committee noted in its document.

The clinical spectrum of Turner syndrome is “much broader and often less severe than that described in many textbooks”—a finding that seems at odds with a “high elective abortion rate for incidentally diagnosed 45,X and 45,X/mosaic fetuses,” the guidelines say. This means that the content of prenatal counseling “needs updating” with the input of Turner syndrome patient and parent groups, the document says.

That's especially true now that the American College of Obstetricians and Gynecologists is recommending that all women, regardless of their age, be offered screening for Down syndrome. Parents who receive a Turner syndrome diagnosis from such screening (Turner syndrome can be an incidental finding) must be given information about the broad phenotypic spectrum of the syndrome and the high quality of life for many patients, Dr. Brody said.

Recent reports of an often-normal quality of life for those receiving comprehensive medical care should encourage—not mitigate—the efforts of physicians to diagnose Turner syndrome as early as possible and better appreciate its many consequences, she said.

The diagnosis should be considered in any female with unexplained growth failure or pubertal delay or any constellation of the syndrome's characteristic physical features, the guidelines say.

“Regrettably, late diagnosis of Turner syndrome, even in adults, is still a problem. No matter what the age of the patient, a full work-up with assessment of congenital malformations should be performed, including all screening tests recommended for younger patients,” the document says.

Adults with Turner syndrome should then be regularly screened for hypertension, diabetes, dyslipidemia, aortic enlargement, hearing loss, osteoporosis, and thyroid and celiac diseases (J. Clin. Endocrinol. Metab. 2007:92:10–25).

The guidelines offer age-specific suggestions for ovarian hormone replacement and say that “ideally, natural estradiol and progesterone, rather than analogs, should be delivered by transdermal or transmembranous routes so as to mimic age-appropriate physiological patterns as closely as possible.”

Regimens can vary to meet individuals' tolerance and preference, however, and “the most important consideration is that women actually take ovarian hormone replacement,” the authors say.

Without it, the risk of significant osteoporosis is high. “These women can have severe osteoporosis at 25,” said Dr. Bondy. “I have a 30-year-old patient who has lost 2 inches of height and has a hump.”

Estrogen therapy often is required to induce pubertal development (30% or more will undergo some spontaneous pubertal development), but experts used to recommend delaying estrogen therapy until age 15 to optimize height potential.

The current consensus is that such delay undervalues the psychosocial importance of age-appropriate puberty. Recent evidence also suggests that low-dose estrogen does not inhibit growth hormone-enhanced increases in stature, said Dr. Bondy.

“There's a new focus on natural, sensitive, and timely puberty induction,” she said.

Recent studies have also suggested a broader spectrum of cardiovascular abnormalities than was previously recognized, and the consensus group agreed to bring “the heart to the forefront,” Dr. Bondy said.

“There's a new emphasis [in the guidelines] on the fact that everyone needs cardiovascular screening—from the newborn to the woman who's 20 and just found out she's infertile [and has Turner syndrome] to the woman who's 40 and just got the [Turner syndrome] diagnosis,” commented Dr. Bondy.

And while echocardiography usually is adequate for screening infants and young girls, MRI also must be performed in older girls and adults.

Reports of fatal aortic dissection during pregnancy and the postpartum period have raised concern about the safety of pregnancy in Turner syndrome, and “preconception assessment must include cardiology evaluation with MRI of the aorta,” the experts say.

When Dr. Fran Cogen, diabetes program director at Children's National Medical Center in Washington, read last year that patients with neonatal diabetes caused by particular genetic mutations could be successfully switched from insulin therapy to oral sulfonylureas, her mind raced.

“We realized we probably had several children with diabetes who were diagnosed under a year of age,” she said. The news about the mutations and treatment “was very interesting to me.”

She called Dr. Louis Philipson, the endocrinologist at the University of Chicago who—according to the article—had just treated a 6-year-old girl found to have a mutation in the KCNJ11 gene with high-dose sulfonylurea therapy, weaning her off her insulin pump.

After hearing about the treatment firsthand, she called one of the patients at Children's, an 18-year-old male whose diabetes had been diagnosed when he was a young infant. Genetic testing revealed that he too had the KCNJ11 mutation, and the family is now gearing up for treatment and a future that, at least in the short term, may well not involve insulin therapy.

Researchers who have spent the last several years trying to demonstrate that diabetes diagnosed before 6 months of age is almost never autoimmune hope that recent developments and reports in the literature will prompt more endocrinologists to take note of their patients' histories and order genetic tests when appropriate.

Neonatal diabetes, which is estimated to occur in 1 of every 100,000 newborns, is one of several clinical presentations in children for which a diagnosis of monogenic diabetes should be considered, experts say. A variety of genetic causes has been identified, but experts now believe that between 30% and 50% of children diagnosed with diabetes under 6 months of age have one of two mutations that affect the ATP-sensitive potassium channel of the beta cell.

The most common cause of permanent neonatal diabetes mellitus—the type of neonatal diabetes that has required continual insulin treatment from diagnosis onward—is a mutation in the KCNJ11 gene, which encodes a subunit of this channel called Kir6.2.

The mutation makes Kir6.2 less sensitive to the build-up of ATP and the channel thus fails to close in the presence of glucose (and increased intracellular ATP), leading to drastic reductions in insulin secretion.

Another less common cause is associated with mutations in the ABCC8 gene, which encodes the sulfonylurea receptor (SUR1)–another subunit of the beta cell's ATP-sensitive potassium channel.

Research on the mutations—and the notion that sulfonylureas can close this channel through an ATP-independent route—culminated last August when Dr. Andrew Hattersley of Peninsula Medical School in Exeter, England, and colleagues from several countries reported in the New England Journal of Medicine that 44 of 49 (90%) patients with kir6.2 mutations—aged 2 months to 36 years—successfully discontinued insulin after receiving high doses of sulfonylureas.

Glycosylated hemoglobin levels improved in all the patients, from a mean of 8.1% before sulfonylurea treatment to 6.4% at 12 weeks after cessation of insulin.

At 1 year, as the patients continued with much lower doses of sulfonylureas, the improved glycemic control was sustained—without any reports of severe hypoglycemia or any significant change in the frequency of hypoglycemia episodes (N. Engl. J. Med. 2006;355:467–77). As of last month, the patients' responses have been maintained past 2 years, Dr. Hattersley said in an interview.

Investigators of a second study published in the same issue of the journal reported that five out of nine patients with the ABCC8 mutation were also successfully switched from insulin therapy to oral sulfonylurea therapy (N. Engl. J. Med. 2006;355:456–65).

The long-term outlook for these patients, however, is uncertain. “We don't know, will they start having hypoglycemia? Will they start having inappropriate weight gain? Does the effectiveness (of sulfonylureas) wear out?” said Dr. Jay Cohen, medical director of the Endocrine Clinic in Memphis, Tenn.

Formation of a registry to assess long-term safety and efficacy would be helpful, he said, since “it's likely that no one institution will have more than one or two or three kids [with neonatal diabetes].”

Dr. Naomi Neufeld, professor of pediatrics at the University of California, Los Angeles, said she agrees that all children with neonatal diabetes should now be screened for the mutations, but she said she would approach treatment with some words of caution.

“It's intriguing to me to wonder, what happens 10 years from now? Will these children be different from those who burn out their pancreas?” she said.

Dr. Philipson said that while no one knows for sure, he suspects that they will indeed be different. “We know in type 2 diabetes, there's a significant failure of sulfonylureas over time. But these are [often] patients who are obese, insulin resistant, maybe hyperlipidemic, or [who] have other aspects of the metabolic syndrome that could impact negatively on their beta-cell function,” he said in an interview.

“These kids [with neonatal diabetes] are thin. All the children that I've seen and that Dr. Hattersley's seen have normal or below-normal [body mass indexes]. They're highly sensitive to insulin, and the insulin secretion we're looking for is modest,” he said.

In addition to Lilly Jaffe, the little girl he treated last summer, Dr. Philipson and his colleague Dr. Graeme Bell have treated six other children from across the country. He estimates about 20 children have been treated in the United States. “And there are at least several hundred others … who could be reached,” he said.

Tests for the mutations are commercially available through at least one company, Athena Diagnostics, he said.

Dr. Philipson has used glyburide, the sulfonylurea used in most of the patients in Dr. Hattersley's study, in an inpatient protocol that allows rapid switching from insulin. His protocol resembled that followed by investigators in Dr. Hattersley's study, which entailed starting glyburide at a dosage of 0.1 mg/kg twice daily and increasing the dosage by 0.2 mg/kg per day. In an outpatient protocol that some of the investigators chose, glyburide was introduced at 0.1 mg/kg per day and increased by that amount once a week.

In Dr. Hattersley's study, the median dosage of glyburide that was required for insulin independence was 0.45 mg/kg per day.

Lilly Jaffe is now receiving much smaller doses of glyburide twice a day, and “remarkably, her morning blood sugars are still quite reasonable,” said Dr. Philipson.

In Washington, Dr. Cogen said she will be “less worried” about using high doses of glyburide in her 18-year-old patient than she would be in a younger child, though she plans to get the word out to all of her patients with neonatal diabetes. “To be able to take a patient off of insulin is so exciting—it's everybody's dream.”

When Dr. Fran Cogen, diabetes program director at Children's National Medical Center in Washington, read last year that patients with neonatal diabetes caused by particular genetic mutations could be successfully switched from insulin therapy to oral sulfonylureas, her mind raced.

“We realized we probably had several children with diabetes who were diagnosed under a year of age,” she said. The news about the mutations and treatment “was very interesting to me.”

She called Dr. Louis Philipson, the endocrinologist at the University of Chicago who—according to the article—had just treated a 6-year-old girl found to have a mutation in the KCNJ11 gene with high-dose sulfonylurea therapy, weaning her off her insulin pump.

After hearing about the treatment firsthand, she called one of the patients at Children's, an 18-year-old male whose diabetes had been diagnosed when he was a young infant. Genetic testing revealed that he too had the KCNJ11 mutation, and the family is now gearing up for treatment and a future that, at least in the short term, may well not involve insulin therapy.

Researchers who have spent the last several years trying to demonstrate that diabetes diagnosed before 6 months of age is almost never autoimmune hope that recent developments and reports in the literature will prompt more endocrinologists to take note of their patients' histories and order genetic tests when appropriate.

Neonatal diabetes, which is estimated to occur in 1 of every 100,000 newborns, is one of several clinical presentations in children for which a diagnosis of monogenic diabetes should be considered, experts say. A variety of genetic causes has been identified, but experts now believe that between 30% and 50% of children diagnosed with diabetes under 6 months of age have one of two mutations that affect the ATP-sensitive potassium channel of the beta cell.

The most common cause of permanent neonatal diabetes mellitus—the type of neonatal diabetes that has required continual insulin treatment from diagnosis onward—is a mutation in the KCNJ11 gene, which encodes a subunit of this channel called Kir6.2.

The mutation makes Kir6.2 less sensitive to the build-up of ATP and the channel thus fails to close in the presence of glucose (and increased intracellular ATP), leading to drastic reductions in insulin secretion.

Another less common cause is associated with mutations in the ABCC8 gene, which encodes the sulfonylurea receptor (SUR1)–another subunit of the beta cell's ATP-sensitive potassium channel.

Research on the mutations—and the notion that sulfonylureas can close this channel through an ATP-independent route—culminated last August when Dr. Andrew Hattersley of Peninsula Medical School in Exeter, England, and colleagues from several countries reported in the New England Journal of Medicine that 44 of 49 (90%) patients with kir6.2 mutations—aged 2 months to 36 years—successfully discontinued insulin after receiving high doses of sulfonylureas.

Glycosylated hemoglobin levels improved in all the patients, from a mean of 8.1% before sulfonylurea treatment to 6.4% at 12 weeks after cessation of insulin.

At 1 year, as the patients continued with much lower doses of sulfonylureas, the improved glycemic control was sustained—without any reports of severe hypoglycemia or any significant change in the frequency of hypoglycemia episodes (N. Engl. J. Med. 2006;355:467–77). As of last month, the patients' responses have been maintained past 2 years, Dr. Hattersley said in an interview.

Investigators of a second study published in the same issue of the journal reported that five out of nine patients with the ABCC8 mutation were also successfully switched from insulin therapy to oral sulfonylurea therapy (N. Engl. J. Med. 2006;355:456–65).

The long-term outlook for these patients, however, is uncertain. “We don't know, will they start having hypoglycemia? Will they start having inappropriate weight gain? Does the effectiveness (of sulfonylureas) wear out?” said Dr. Jay Cohen, medical director of the Endocrine Clinic in Memphis, Tenn.

Formation of a registry to assess long-term safety and efficacy would be helpful, he said, since “it's likely that no one institution will have more than one or two or three kids [with neonatal diabetes].”

Dr. Naomi Neufeld, professor of pediatrics at the University of California, Los Angeles, said she agrees that all children with neonatal diabetes should now be screened for the mutations, but she said she would approach treatment with some words of caution.

“It's intriguing to me to wonder, what happens 10 years from now? Will these children be different from those who burn out their pancreas?” she said.

Dr. Philipson said that while no one knows for sure, he suspects that they will indeed be different. “We know in type 2 diabetes, there's a significant failure of sulfonylureas over time. But these are [often] patients who are obese, insulin resistant, maybe hyperlipidemic, or [who] have other aspects of the metabolic syndrome that could impact negatively on their beta-cell function,” he said in an interview.

“These kids [with neonatal diabetes] are thin. All the children that I've seen and that Dr. Hattersley's seen have normal or below-normal [body mass indexes]. They're highly sensitive to insulin, and the insulin secretion we're looking for is modest,” he said.

In addition to Lilly Jaffe, the little girl he treated last summer, Dr. Philipson and his colleague Dr. Graeme Bell have treated six other children from across the country. He estimates about 20 children have been treated in the United States. “And there are at least several hundred others … who could be reached,” he said.

Tests for the mutations are commercially available through at least one company, Athena Diagnostics, he said.

Dr. Philipson has used glyburide, the sulfonylurea used in most of the patients in Dr. Hattersley's study, in an inpatient protocol that allows rapid switching from insulin. His protocol resembled that followed by investigators in Dr. Hattersley's study, which entailed starting glyburide at a dosage of 0.1 mg/kg twice daily and increasing the dosage by 0.2 mg/kg per day. In an outpatient protocol that some of the investigators chose, glyburide was introduced at 0.1 mg/kg per day and increased by that amount once a week.

In Dr. Hattersley's study, the median dosage of glyburide that was required for insulin independence was 0.45 mg/kg per day.

Lilly Jaffe is now receiving much smaller doses of glyburide twice a day, and “remarkably, her morning blood sugars are still quite reasonable,” said Dr. Philipson.

In Washington, Dr. Cogen said she will be “less worried” about using high doses of glyburide in her 18-year-old patient than she would be in a younger child, though she plans to get the word out to all of her patients with neonatal diabetes. “To be able to take a patient off of insulin is so exciting—it's everybody's dream.”

When Dr. Fran Cogen, diabetes program director at Children's National Medical Center in Washington, read last year that patients with neonatal diabetes caused by particular genetic mutations could be successfully switched from insulin therapy to oral sulfonylureas, her mind raced.

“We realized we probably had several children with diabetes who were diagnosed under a year of age,” she said. The news about the mutations and treatment “was very interesting to me.”

She called Dr. Louis Philipson, the endocrinologist at the University of Chicago who—according to the article—had just treated a 6-year-old girl found to have a mutation in the KCNJ11 gene with high-dose sulfonylurea therapy, weaning her off her insulin pump.

After hearing about the treatment firsthand, she called one of the patients at Children's, an 18-year-old male whose diabetes had been diagnosed when he was a young infant. Genetic testing revealed that he too had the KCNJ11 mutation, and the family is now gearing up for treatment and a future that, at least in the short term, may well not involve insulin therapy.

Researchers who have spent the last several years trying to demonstrate that diabetes diagnosed before 6 months of age is almost never autoimmune hope that recent developments and reports in the literature will prompt more endocrinologists to take note of their patients' histories and order genetic tests when appropriate.

Neonatal diabetes, which is estimated to occur in 1 of every 100,000 newborns, is one of several clinical presentations in children for which a diagnosis of monogenic diabetes should be considered, experts say. A variety of genetic causes has been identified, but experts now believe that between 30% and 50% of children diagnosed with diabetes under 6 months of age have one of two mutations that affect the ATP-sensitive potassium channel of the beta cell.

The most common cause of permanent neonatal diabetes mellitus—the type of neonatal diabetes that has required continual insulin treatment from diagnosis onward—is a mutation in the KCNJ11 gene, which encodes a subunit of this channel called Kir6.2.

The mutation makes Kir6.2 less sensitive to the build-up of ATP and the channel thus fails to close in the presence of glucose (and increased intracellular ATP), leading to drastic reductions in insulin secretion.

Another less common cause is associated with mutations in the ABCC8 gene, which encodes the sulfonylurea receptor (SUR1)–another subunit of the beta cell's ATP-sensitive potassium channel.

Research on the mutations—and the notion that sulfonylureas can close this channel through an ATP-independent route—culminated last August when Dr. Andrew Hattersley of Peninsula Medical School in Exeter, England, and colleagues from several countries reported in the New England Journal of Medicine that 44 of 49 (90%) patients with kir6.2 mutations—aged 2 months to 36 years—successfully discontinued insulin after receiving high doses of sulfonylureas.

Glycosylated hemoglobin levels improved in all the patients, from a mean of 8.1% before sulfonylurea treatment to 6.4% at 12 weeks after cessation of insulin.

At 1 year, as the patients continued with much lower doses of sulfonylureas, the improved glycemic control was sustained—without any reports of severe hypoglycemia or any significant change in the frequency of hypoglycemia episodes (N. Engl. J. Med. 2006;355:467–77). As of last month, the patients' responses have been maintained past 2 years, Dr. Hattersley said in an interview.

Investigators of a second study published in the same issue of the journal reported that five out of nine patients with the ABCC8 mutation were also successfully switched from insulin therapy to oral sulfonylurea therapy (N. Engl. J. Med. 2006;355:456–65).

The long-term outlook for these patients, however, is uncertain. “We don't know, will they start having hypoglycemia? Will they start having inappropriate weight gain? Does the effectiveness (of sulfonylureas) wear out?” said Dr. Jay Cohen, medical director of the Endocrine Clinic in Memphis, Tenn.

Formation of a registry to assess long-term safety and efficacy would be helpful, he said, since “it's likely that no one institution will have more than one or two or three kids [with neonatal diabetes].”

Dr. Naomi Neufeld, professor of pediatrics at the University of California, Los Angeles, said she agrees that all children with neonatal diabetes should now be screened for the mutations, but she said she would approach treatment with some words of caution.

“It's intriguing to me to wonder, what happens 10 years from now? Will these children be different from those who burn out their pancreas?” she said.

Dr. Philipson said that while no one knows for sure, he suspects that they will indeed be different. “We know in type 2 diabetes, there's a significant failure of sulfonylureas over time. But these are [often] patients who are obese, insulin resistant, maybe hyperlipidemic, or [who] have other aspects of the metabolic syndrome that could impact negatively on their beta-cell function,” he said in an interview.

“These kids [with neonatal diabetes] are thin. All the children that I've seen and that Dr. Hattersley's seen have normal or below-normal [body mass indexes]. They're highly sensitive to insulin, and the insulin secretion we're looking for is modest,” he said.

In addition to Lilly Jaffe, the little girl he treated last summer, Dr. Philipson and his colleague Dr. Graeme Bell have treated six other children from across the country. He estimates about 20 children have been treated in the United States. “And there are at least several hundred others … who could be reached,” he said.

Tests for the mutations are commercially available through at least one company, Athena Diagnostics, he said.

Dr. Philipson has used glyburide, the sulfonylurea used in most of the patients in Dr. Hattersley's study, in an inpatient protocol that allows rapid switching from insulin. His protocol resembled that followed by investigators in Dr. Hattersley's study, which entailed starting glyburide at a dosage of 0.1 mg/kg twice daily and increasing the dosage by 0.2 mg/kg per day. In an outpatient protocol that some of the investigators chose, glyburide was introduced at 0.1 mg/kg per day and increased by that amount once a week.

In Dr. Hattersley's study, the median dosage of glyburide that was required for insulin independence was 0.45 mg/kg per day.

Lilly Jaffe is now receiving much smaller doses of glyburide twice a day, and “remarkably, her morning blood sugars are still quite reasonable,” said Dr. Philipson.

In Washington, Dr. Cogen said she will be “less worried” about using high doses of glyburide in her 18-year-old patient than she would be in a younger child, though she plans to get the word out to all of her patients with neonatal diabetes. “To be able to take a patient off of insulin is so exciting—it's everybody's dream.”

Updated guidelines on evaluating and treating girls and women with Turner syndrome advise against the practice of delaying puberty to increase height and emphasize the importance of early diagnosis, estrogen treatment, and more comprehensive cardiovascular evaluation—including the use of diagnostic MRI—than is typically done today.

Although the guidelines from the international, multidisciplinary Turner Syndrome Consensus Study Group detail how children should be evaluated and cared for—emphasizing, for example, the importance of comprehensive educational evaluation in early childhood—the experts also clearly state that care for adults is more often falling short.

“The care of adults with TS has received less attention than [has] the treatment of children, and many seem to be falling through the cracks with inadequate cardiovascular evaluation and estrogen treatment,” say the new guidelines, published in the Journal of Clinical Endocrinology & Metabolism.

On the other hand, while medical care must be improved and while many questions about care “remain unanswered,” the experts “realize now that we have a lot more well-functioning people with TS,” Dr. Carolyn A. Bondy said in an interview.

Dr. Bondy, chief of the developmental endocrinology branch at the National Institute of Child Health and Human Development in Bethesda, Md., chaired the consensus conference and guideline-writing committee for the consensus group, which met last summer to update recommendations issued in 2001. The guidelines mainly represent “consensus judgments” rather than evidence-based conclusions, the committee noted in its document.

The clinical spectrum of TS is “much broader and often less severe than that described in many textbooks”–a finding that seems at odds with a “high elective abortion rate for incidentally diagnosed 45, X and 45, X/mosaic fetuses,” the guidelines say. This means that the content of prenatal counseling “needs updating” with the input of TS patient and parent groups, the document says.

That's especially true now that the American College of Obstetricians and Gynecologists is recommending that all women, regardless of their age, be offered screening for Down syndrome. Parents who receive a Turner syndrome diagnosis from such screening (TS can be an incidental finding) must be given information about the broad phenotypic spectrum of the syndrome and the high quality of life for many patients, Dr. Brody said.

Recent reports of an often-normal quality of life for those receiving comprehensive medical care should encourage—not mitigate—the efforts of physicians to diagnose TS as early as possible and better appreciate its many consequences, she said.

The diagnosis should be considered in any female with unexplained growth failure or pubertal delay or any constellation of the syndrome's characteristic physical features, the guidelines say.

“Regrettably, late diagnosis of TS, even in adults, is still a problem. No matter what the age of the patient, a full work-up with assessment of congenital malformations should be performed, including all screening tests recommended for younger patients,” the document says.

Adults with TS should then be regularly screened for hypertension, diabetes, dyslipidemia, aortic enlargement, hearing loss, osteoporosis, and thyroid and celiac diseases (J. Clin. Endocrinol. Metab. 2007:92:10–25).

The guidelines offer age-specific suggestions for ovarian hormone replacement and say that “ideally, natural estradiol and progesterone, rather than analogs, should be delivered by transdermal or transmembranous routes so as to mimic age-appropriate physiological patterns as closely as possible.”

Regimens can vary to meet individuals' tolerance and preference, however, and “the most important consideration is that women actually take ovarian hormone replacement,” the authors say.

Without it, the risk of significant osteoporosis is high. “These women can have severe osteoporosis at 25,” said Dr. Bondy. “I have a 30-year-old patient who has lost 2 inches of height and has a hump.”

Estrogen therapy often is required to induce pubertal development (30% or more will undergo some spontaneous pubertal development), but experts used to recommend delaying estrogen therapy until age 15 to optimize height potential.

Today, Dr. Bondy said, the consensus is that such delay undervalues the psychosocial importance of age-appropriate puberty. Recent evidence also suggests that low-dose estrogen does not inhibit growth hormone-enhanced increases in stature.

Recent studies have also suggested a broader spectrum of cardiovascular abnormalities than were previously recognized, and the consensus group agreed to bring “the heart to the forefront,” Dr. Bondy said. “There's a new emphasis [in the guidelines] on the fact that everyone needs cardiovascular screening—from the newborn to the woman who's 20 and just found out she's infertile [and has TS] to the woman who's 40 and just got the [TS] diagnosis.”

And while echocardiography usually is adequate for screening infants and young girls, MRI also must be performed in older girls and adults.

Reports of fatal aortic dissection during pregnancy and the postpartum period have raised concern about the safety of pregnancy in TS, and “preconception assessment must include cardiology evaluation with MRI of the aorta,” the experts say.

Updated guidelines on evaluating and treating girls and women with Turner syndrome advise against the practice of delaying puberty to increase height and emphasize the importance of early diagnosis, estrogen treatment, and more comprehensive cardiovascular evaluation—including the use of diagnostic MRI—than is typically done today.

Although the guidelines from the international, multidisciplinary Turner Syndrome Consensus Study Group detail how children should be evaluated and cared for—emphasizing, for example, the importance of comprehensive educational evaluation in early childhood—the experts also clearly state that care for adults is more often falling short.

“The care of adults with TS has received less attention than [has] the treatment of children, and many seem to be falling through the cracks with inadequate cardiovascular evaluation and estrogen treatment,” say the new guidelines, published in the Journal of Clinical Endocrinology & Metabolism.

On the other hand, while medical care must be improved and while many questions about care “remain unanswered,” the experts “realize now that we have a lot more well-functioning people with TS,” Dr. Carolyn A. Bondy said in an interview.

Dr. Bondy, chief of the developmental endocrinology branch at the National Institute of Child Health and Human Development in Bethesda, Md., chaired the consensus conference and guideline-writing committee for the consensus group, which met last summer to update recommendations issued in 2001. The guidelines mainly represent “consensus judgments” rather than evidence-based conclusions, the committee noted in its document.

The clinical spectrum of TS is “much broader and often less severe than that described in many textbooks”–a finding that seems at odds with a “high elective abortion rate for incidentally diagnosed 45, X and 45, X/mosaic fetuses,” the guidelines say. This means that the content of prenatal counseling “needs updating” with the input of TS patient and parent groups, the document says.

That's especially true now that the American College of Obstetricians and Gynecologists is recommending that all women, regardless of their age, be offered screening for Down syndrome. Parents who receive a Turner syndrome diagnosis from such screening (TS can be an incidental finding) must be given information about the broad phenotypic spectrum of the syndrome and the high quality of life for many patients, Dr. Brody said.

Recent reports of an often-normal quality of life for those receiving comprehensive medical care should encourage—not mitigate—the efforts of physicians to diagnose TS as early as possible and better appreciate its many consequences, she said.

The diagnosis should be considered in any female with unexplained growth failure or pubertal delay or any constellation of the syndrome's characteristic physical features, the guidelines say.

“Regrettably, late diagnosis of TS, even in adults, is still a problem. No matter what the age of the patient, a full work-up with assessment of congenital malformations should be performed, including all screening tests recommended for younger patients,” the document says.

Adults with TS should then be regularly screened for hypertension, diabetes, dyslipidemia, aortic enlargement, hearing loss, osteoporosis, and thyroid and celiac diseases (J. Clin. Endocrinol. Metab. 2007:92:10–25).

The guidelines offer age-specific suggestions for ovarian hormone replacement and say that “ideally, natural estradiol and progesterone, rather than analogs, should be delivered by transdermal or transmembranous routes so as to mimic age-appropriate physiological patterns as closely as possible.”

Regimens can vary to meet individuals' tolerance and preference, however, and “the most important consideration is that women actually take ovarian hormone replacement,” the authors say.

Without it, the risk of significant osteoporosis is high. “These women can have severe osteoporosis at 25,” said Dr. Bondy. “I have a 30-year-old patient who has lost 2 inches of height and has a hump.”

Estrogen therapy often is required to induce pubertal development (30% or more will undergo some spontaneous pubertal development), but experts used to recommend delaying estrogen therapy until age 15 to optimize height potential.

Today, Dr. Bondy said, the consensus is that such delay undervalues the psychosocial importance of age-appropriate puberty. Recent evidence also suggests that low-dose estrogen does not inhibit growth hormone-enhanced increases in stature.

Recent studies have also suggested a broader spectrum of cardiovascular abnormalities than were previously recognized, and the consensus group agreed to bring “the heart to the forefront,” Dr. Bondy said. “There's a new emphasis [in the guidelines] on the fact that everyone needs cardiovascular screening—from the newborn to the woman who's 20 and just found out she's infertile [and has TS] to the woman who's 40 and just got the [TS] diagnosis.”

And while echocardiography usually is adequate for screening infants and young girls, MRI also must be performed in older girls and adults.

Reports of fatal aortic dissection during pregnancy and the postpartum period have raised concern about the safety of pregnancy in TS, and “preconception assessment must include cardiology evaluation with MRI of the aorta,” the experts say.

Updated guidelines on evaluating and treating girls and women with Turner syndrome advise against the practice of delaying puberty to increase height and emphasize the importance of early diagnosis, estrogen treatment, and more comprehensive cardiovascular evaluation—including the use of diagnostic MRI—than is typically done today.

Although the guidelines from the international, multidisciplinary Turner Syndrome Consensus Study Group detail how children should be evaluated and cared for—emphasizing, for example, the importance of comprehensive educational evaluation in early childhood—the experts also clearly state that care for adults is more often falling short.

“The care of adults with TS has received less attention than [has] the treatment of children, and many seem to be falling through the cracks with inadequate cardiovascular evaluation and estrogen treatment,” say the new guidelines, published in the Journal of Clinical Endocrinology & Metabolism.

On the other hand, while medical care must be improved and while many questions about care “remain unanswered,” the experts “realize now that we have a lot more well-functioning people with TS,” Dr. Carolyn A. Bondy said in an interview.

Dr. Bondy, chief of the developmental endocrinology branch at the National Institute of Child Health and Human Development in Bethesda, Md., chaired the consensus conference and guideline-writing committee for the consensus group, which met last summer to update recommendations issued in 2001. The guidelines mainly represent “consensus judgments” rather than evidence-based conclusions, the committee noted in its document.

The clinical spectrum of TS is “much broader and often less severe than that described in many textbooks”–a finding that seems at odds with a “high elective abortion rate for incidentally diagnosed 45, X and 45, X/mosaic fetuses,” the guidelines say. This means that the content of prenatal counseling “needs updating” with the input of TS patient and parent groups, the document says.

That's especially true now that the American College of Obstetricians and Gynecologists is recommending that all women, regardless of their age, be offered screening for Down syndrome. Parents who receive a Turner syndrome diagnosis from such screening (TS can be an incidental finding) must be given information about the broad phenotypic spectrum of the syndrome and the high quality of life for many patients, Dr. Brody said.

Recent reports of an often-normal quality of life for those receiving comprehensive medical care should encourage—not mitigate—the efforts of physicians to diagnose TS as early as possible and better appreciate its many consequences, she said.

The diagnosis should be considered in any female with unexplained growth failure or pubertal delay or any constellation of the syndrome's characteristic physical features, the guidelines say.

“Regrettably, late diagnosis of TS, even in adults, is still a problem. No matter what the age of the patient, a full work-up with assessment of congenital malformations should be performed, including all screening tests recommended for younger patients,” the document says.

Adults with TS should then be regularly screened for hypertension, diabetes, dyslipidemia, aortic enlargement, hearing loss, osteoporosis, and thyroid and celiac diseases (J. Clin. Endocrinol. Metab. 2007:92:10–25).

The guidelines offer age-specific suggestions for ovarian hormone replacement and say that “ideally, natural estradiol and progesterone, rather than analogs, should be delivered by transdermal or transmembranous routes so as to mimic age-appropriate physiological patterns as closely as possible.”

Regimens can vary to meet individuals' tolerance and preference, however, and “the most important consideration is that women actually take ovarian hormone replacement,” the authors say.

Without it, the risk of significant osteoporosis is high. “These women can have severe osteoporosis at 25,” said Dr. Bondy. “I have a 30-year-old patient who has lost 2 inches of height and has a hump.”

Estrogen therapy often is required to induce pubertal development (30% or more will undergo some spontaneous pubertal development), but experts used to recommend delaying estrogen therapy until age 15 to optimize height potential.

Today, Dr. Bondy said, the consensus is that such delay undervalues the psychosocial importance of age-appropriate puberty. Recent evidence also suggests that low-dose estrogen does not inhibit growth hormone-enhanced increases in stature.

Recent studies have also suggested a broader spectrum of cardiovascular abnormalities than were previously recognized, and the consensus group agreed to bring “the heart to the forefront,” Dr. Bondy said. “There's a new emphasis [in the guidelines] on the fact that everyone needs cardiovascular screening—from the newborn to the woman who's 20 and just found out she's infertile [and has TS] to the woman who's 40 and just got the [TS] diagnosis.”

And while echocardiography usually is adequate for screening infants and young girls, MRI also must be performed in older girls and adults.

Reports of fatal aortic dissection during pregnancy and the postpartum period have raised concern about the safety of pregnancy in TS, and “preconception assessment must include cardiology evaluation with MRI of the aorta,” the experts say.

Early functional disability independently predicted cardiovascular disease-related mortality as well as all-cause mortality in patients with inflammatory polyarthritis, investigators reported.

The finding builds on other studies demonstrating the predictive value of early functional disability in rheumatoid arthritis (RA), and “may help guide the targeting of aggressive therapies,” reported Tracey M. Farragher of the University of Manchester (England), and associates.

The investigators used the Norfolk Arthritis Register, in Norwich, England, to determine if early functional disability is a useful independent predictor of increased cardiac risk.

Disability was measured at baseline and again at 1 year using the Health Assessment Questionnaire (HAQ).

Patients were referred to the registry if they had swelling of at least two joints for at least 4 weeks. About 45% were classified as having RA at referral, and by 5 years about 67% had satisfied the American College of Rheumatology criteria for RA. All patients (mean age 54 years) were followed until death or for 10 years after registration, whichever came first.

By 10 years, 171 (17%) of 1,010 patients had died, and 89 (52%) of those deaths were attributed to cardiovascular disease.

Both all-cause mortality and cardiovascular disease-related mortality increased sharply as the HAQ scores from either the baseline assessment or the 1-year follow-up increased, the investigators reported (Ann. Rheum. Dis. 2006 Nov. 7 [Epub doi: 10.1136/ard.2006.056390]).

When year 1 HAQ scores were focused on and adjusted for other predictors, the investigators found that functional disability and rheumatoid factor positivity were independent predictors of subsequent early death, including cardiac death, according to the investigators. With each one-point increase in HAQ score, patients had a 48% higher risk of dying within the follow-up period, and a 52% higher risk of dying from cardiovascular disease.

Using HAQ scores obtained at baseline, the investigators found that while disability was a significant risk factor (increasing the risk of all-cause death and cardiovascular disease death by 27% and 15%, respectively, for each 1-point increase in HAQ score), rheumatoid factor positivity was the only independent predictor of all-cause and cardiovascular disease mortality. The investigators repeated the analysis for patients who satisfied ACR criteria for RA by 5 years, and found that the predictive value of 1-year HAQ scores was similar to the predictive value for patients with inflammatory polyarthritis and not RA.

Early functional disability independently predicted cardiovascular disease-related mortality as well as all-cause mortality in patients with inflammatory polyarthritis, investigators reported.

The finding builds on other studies demonstrating the predictive value of early functional disability in rheumatoid arthritis (RA), and “may help guide the targeting of aggressive therapies,” reported Tracey M. Farragher of the University of Manchester (England), and associates.

The investigators used the Norfolk Arthritis Register, in Norwich, England, to determine if early functional disability is a useful independent predictor of increased cardiac risk.

Disability was measured at baseline and again at 1 year using the Health Assessment Questionnaire (HAQ).

Patients were referred to the registry if they had swelling of at least two joints for at least 4 weeks. About 45% were classified as having RA at referral, and by 5 years about 67% had satisfied the American College of Rheumatology criteria for RA. All patients (mean age 54 years) were followed until death or for 10 years after registration, whichever came first.

By 10 years, 171 (17%) of 1,010 patients had died, and 89 (52%) of those deaths were attributed to cardiovascular disease.

Both all-cause mortality and cardiovascular disease-related mortality increased sharply as the HAQ scores from either the baseline assessment or the 1-year follow-up increased, the investigators reported (Ann. Rheum. Dis. 2006 Nov. 7 [Epub doi: 10.1136/ard.2006.056390]).

When year 1 HAQ scores were focused on and adjusted for other predictors, the investigators found that functional disability and rheumatoid factor positivity were independent predictors of subsequent early death, including cardiac death, according to the investigators. With each one-point increase in HAQ score, patients had a 48% higher risk of dying within the follow-up period, and a 52% higher risk of dying from cardiovascular disease.

Using HAQ scores obtained at baseline, the investigators found that while disability was a significant risk factor (increasing the risk of all-cause death and cardiovascular disease death by 27% and 15%, respectively, for each 1-point increase in HAQ score), rheumatoid factor positivity was the only independent predictor of all-cause and cardiovascular disease mortality. The investigators repeated the analysis for patients who satisfied ACR criteria for RA by 5 years, and found that the predictive value of 1-year HAQ scores was similar to the predictive value for patients with inflammatory polyarthritis and not RA.

Early functional disability independently predicted cardiovascular disease-related mortality as well as all-cause mortality in patients with inflammatory polyarthritis, investigators reported.

The finding builds on other studies demonstrating the predictive value of early functional disability in rheumatoid arthritis (RA), and “may help guide the targeting of aggressive therapies,” reported Tracey M. Farragher of the University of Manchester (England), and associates.

The investigators used the Norfolk Arthritis Register, in Norwich, England, to determine if early functional disability is a useful independent predictor of increased cardiac risk.

Disability was measured at baseline and again at 1 year using the Health Assessment Questionnaire (HAQ).

Patients were referred to the registry if they had swelling of at least two joints for at least 4 weeks. About 45% were classified as having RA at referral, and by 5 years about 67% had satisfied the American College of Rheumatology criteria for RA. All patients (mean age 54 years) were followed until death or for 10 years after registration, whichever came first.

By 10 years, 171 (17%) of 1,010 patients had died, and 89 (52%) of those deaths were attributed to cardiovascular disease.

Both all-cause mortality and cardiovascular disease-related mortality increased sharply as the HAQ scores from either the baseline assessment or the 1-year follow-up increased, the investigators reported (Ann. Rheum. Dis. 2006 Nov. 7 [Epub doi: 10.1136/ard.2006.056390]).

When year 1 HAQ scores were focused on and adjusted for other predictors, the investigators found that functional disability and rheumatoid factor positivity were independent predictors of subsequent early death, including cardiac death, according to the investigators. With each one-point increase in HAQ score, patients had a 48% higher risk of dying within the follow-up period, and a 52% higher risk of dying from cardiovascular disease.

Using HAQ scores obtained at baseline, the investigators found that while disability was a significant risk factor (increasing the risk of all-cause death and cardiovascular disease death by 27% and 15%, respectively, for each 1-point increase in HAQ score), rheumatoid factor positivity was the only independent predictor of all-cause and cardiovascular disease mortality. The investigators repeated the analysis for patients who satisfied ACR criteria for RA by 5 years, and found that the predictive value of 1-year HAQ scores was similar to the predictive value for patients with inflammatory polyarthritis and not RA.

Treatment with tumor necrosis factor-blocking agents is more effective than methotrexate monotherapy at easing pain and fatigue in patients with psoriatic arthritis and in improving their general health when used in daily clinical practice, according to investigators of an ongoing longitudinal, observational study in Norway.

In a report of 6-month results, investigators said that 526 patients with psoriatic arthritis improved regardless of whether they received methotrexate (MTX) monotherapy or TNF-blocking agents, but “the improvement was larger with TNF-inhibitors.” Assessments were made using numerous measures of disease activity and health-related quality of life (Ann. Rheum. Dis. 2007 Jan. 9 [Epub doi:10.1136/ard.2006. 064808]).

The patients were part of a larger Norwegian registry—the NOR-DMARD Register—in which five Norwegian rheumatology departments consecutively register all their patients with inflammatory arthropathies, said Dr. M.S. Heiberg, of the department of rheumatology in Diakonhjemmet Hospital in Oslo, Norway, and fellow associates.

The patients had a mean age of 48 years and mean disease duration of 7 years. Almost 50% were females; 35% had erosive disease.

Of the 526 patients, 380 received MTX monotherapy and 146 received the TNF-blocking agents infliximab, etanercept, and adalimumab. Of those receiving anti-TNF therapy, 75% of those on infliximab, 60% of those on etanercept, and 79% of those on adalimumab received comcomitant MTX. Patients receiving anti-TNF therapy generally had more active and severe disease.

In assessing the clinical improvement, adjustments were made for age, gender, number of previous disease-modifying antirheumatic drugs, the presence of erosive disease, the treatment center, and the investigator's global assessment, the investigators said.

The adjusted changes at 3 and 6 months were significantly larger in the anti-TNF group for the following assessments: erythrocyte sedimentation rate, Disease Activity Score-28, a shortened version of the health assessment question (M-HAQ), fatigue and global disease activity on a visual analog scale, and four out of eight dimensions on the Short Form-36 health survey (bodily pain, vitality, role physical, and general health).

For instance, SF-36 scores for bodily pain rose by about 18 in the anti-TNF group and by 10 in the MTX group, while scores for general health rose by 7 and 2, respectively. (Scores are computed with a value from 0 to 100, with 100 being the best possible health state.)

Whether concomitant MTX was given in conjunction with anti-TNF therapy made little difference, a subanalysis showed. Improvements in the measures were similar between the subgroups of anti-TNF therapy.

More studies are needed to further establish the role of traditional drugs, they said.

Treatment with tumor necrosis factor-blocking agents is more effective than methotrexate monotherapy at easing pain and fatigue in patients with psoriatic arthritis and in improving their general health when used in daily clinical practice, according to investigators of an ongoing longitudinal, observational study in Norway.

In a report of 6-month results, investigators said that 526 patients with psoriatic arthritis improved regardless of whether they received methotrexate (MTX) monotherapy or TNF-blocking agents, but “the improvement was larger with TNF-inhibitors.” Assessments were made using numerous measures of disease activity and health-related quality of life (Ann. Rheum. Dis. 2007 Jan. 9 [Epub doi:10.1136/ard.2006. 064808]).

The patients were part of a larger Norwegian registry—the NOR-DMARD Register—in which five Norwegian rheumatology departments consecutively register all their patients with inflammatory arthropathies, said Dr. M.S. Heiberg, of the department of rheumatology in Diakonhjemmet Hospital in Oslo, Norway, and fellow associates.

The patients had a mean age of 48 years and mean disease duration of 7 years. Almost 50% were females; 35% had erosive disease.

Of the 526 patients, 380 received MTX monotherapy and 146 received the TNF-blocking agents infliximab, etanercept, and adalimumab. Of those receiving anti-TNF therapy, 75% of those on infliximab, 60% of those on etanercept, and 79% of those on adalimumab received comcomitant MTX. Patients receiving anti-TNF therapy generally had more active and severe disease.

In assessing the clinical improvement, adjustments were made for age, gender, number of previous disease-modifying antirheumatic drugs, the presence of erosive disease, the treatment center, and the investigator's global assessment, the investigators said.

The adjusted changes at 3 and 6 months were significantly larger in the anti-TNF group for the following assessments: erythrocyte sedimentation rate, Disease Activity Score-28, a shortened version of the health assessment question (M-HAQ), fatigue and global disease activity on a visual analog scale, and four out of eight dimensions on the Short Form-36 health survey (bodily pain, vitality, role physical, and general health).

For instance, SF-36 scores for bodily pain rose by about 18 in the anti-TNF group and by 10 in the MTX group, while scores for general health rose by 7 and 2, respectively. (Scores are computed with a value from 0 to 100, with 100 being the best possible health state.)

Whether concomitant MTX was given in conjunction with anti-TNF therapy made little difference, a subanalysis showed. Improvements in the measures were similar between the subgroups of anti-TNF therapy.

More studies are needed to further establish the role of traditional drugs, they said.

Treatment with tumor necrosis factor-blocking agents is more effective than methotrexate monotherapy at easing pain and fatigue in patients with psoriatic arthritis and in improving their general health when used in daily clinical practice, according to investigators of an ongoing longitudinal, observational study in Norway.

In a report of 6-month results, investigators said that 526 patients with psoriatic arthritis improved regardless of whether they received methotrexate (MTX) monotherapy or TNF-blocking agents, but “the improvement was larger with TNF-inhibitors.” Assessments were made using numerous measures of disease activity and health-related quality of life (Ann. Rheum. Dis. 2007 Jan. 9 [Epub doi:10.1136/ard.2006. 064808]).

The patients were part of a larger Norwegian registry—the NOR-DMARD Register—in which five Norwegian rheumatology departments consecutively register all their patients with inflammatory arthropathies, said Dr. M.S. Heiberg, of the department of rheumatology in Diakonhjemmet Hospital in Oslo, Norway, and fellow associates.

The patients had a mean age of 48 years and mean disease duration of 7 years. Almost 50% were females; 35% had erosive disease.

Of the 526 patients, 380 received MTX monotherapy and 146 received the TNF-blocking agents infliximab, etanercept, and adalimumab. Of those receiving anti-TNF therapy, 75% of those on infliximab, 60% of those on etanercept, and 79% of those on adalimumab received comcomitant MTX. Patients receiving anti-TNF therapy generally had more active and severe disease.

In assessing the clinical improvement, adjustments were made for age, gender, number of previous disease-modifying antirheumatic drugs, the presence of erosive disease, the treatment center, and the investigator's global assessment, the investigators said.

The adjusted changes at 3 and 6 months were significantly larger in the anti-TNF group for the following assessments: erythrocyte sedimentation rate, Disease Activity Score-28, a shortened version of the health assessment question (M-HAQ), fatigue and global disease activity on a visual analog scale, and four out of eight dimensions on the Short Form-36 health survey (bodily pain, vitality, role physical, and general health).

For instance, SF-36 scores for bodily pain rose by about 18 in the anti-TNF group and by 10 in the MTX group, while scores for general health rose by 7 and 2, respectively. (Scores are computed with a value from 0 to 100, with 100 being the best possible health state.)

Whether concomitant MTX was given in conjunction with anti-TNF therapy made little difference, a subanalysis showed. Improvements in the measures were similar between the subgroups of anti-TNF therapy.

More studies are needed to further establish the role of traditional drugs, they said.

In response to new technologies and expected decreases in reimbursement for “traditional” procedures, gastroenterologists “will need to change what they do, where they practice, and how they practice,” according to a report issued by the American Gastroenterological Association Institute's Future Trends Committee.

Above all, computed tomographic colonography (CTC) “is likely to become an accepted colorectal cancer screening option within 3 years,” said the report, which was based on expert presentations at a conference convened last spring.

To maintain their practices, gastroenterologists will need to consider new services, which could include providing and interpreting CTC, obesity care, gastroenterological cancer treatment, and natural orifice transluminal endoscopic surgery.

Chronic or difficult-to-treat conditions, like hepatitis and motility and functional disorders, might also assume a bigger role in practice. Nurse-practitioners and physician assistants will likely play larger roles as gastroenterologists “embrace and act on the philosophy that the gastroenterologist is the leader and manager, and not necessarily the direct provider” of digestive disease care, according to the report (Gastroenterology 2006;131:1287–312).

Dr. Timothy C. Wang, who chaired the 10-member consensus development panel, said that CTC will likely be the first technology to take a share of colorectal cancer screening, but that members found it “difficult to predict what percentage of the screening market will shift to CTC.

“Further studies will likely show that CTC is comparable to optical colonoscopy in terms of sensitivity and specificity; however, other advances also may prove to detect polyps.” Also, gastroenterologists “should not completely cede colon imaging to radiologists,” said Dr. Wang, chief of the division of digestive and liver diseases at Columbia University, New York. Some gastroenterology groups have expressed interest in purchasing CT scanners, and the committee recommended that the American Gastroenterological Association (AGA) Institute develop training programs for CTC interpretation.

Gastroenterologists contacted for their perspectives on the report called the conclusions provocative but differed about whether the report is realistic or alarmist.

The report “is thorough and thought provoking … and anything that the AGA Institute can do to raise the level of thought and discussion is laudable,” said Dr. Ronald Vender, professor of medicine at Yale University, New Haven, Conn. “I think the impact [of CTC and other changes] will be much less than they're predicting,” he said, especially when considered from a cost-benefit perspective.

“Colonoscopy rates will probably go up rather than down,” commented Dr. James T. Frakes, professor of medicine at the University of Illinois, Rockford. “But even it that's not the case, gastroenterologists should always be looking for ways to improve and broaden their services,” he said.

“Colonoscopy has become the tail that's wagged the dog,” Dr. John L. Petrini of Sansum Clinic in Santa Barbara, Calif., said. “It's become a huge part of what we do, and I'm not sure it's going to stay that way. … But I don't think that CTC is going to be the one that's a keeper.”

Optical colonoscopy also is getting better, and lesions can be removed immediately in patients who are found to have adenomatous polyps during screening. Avoiding the need for a second procedure makes optical colonoscopy a cost-effective, attractive screening option, he said.

Many patients, said Dr. Douglas K. Rex, professor of medicine at Indiana University, Indianapolis, “will be disillusioned if they have a polyp and have to go on to have another test. … Americans like effectiveness. There will be other effective devices, but it's going to be hard for them to be as effective as colonoscopy.”

There also “hasn't been adequate discussion or education of the public regarding the potential risks of radiation” associated with screening CTC, he added.

Technologies ranging from wireless capsule endoscopy to simplified endoscopes will allow generalists and even nonphysician providers to perform colon surveillance. And over the long term, it will become possible to stratify cancer risk through serum-based proteomics, for example, and genetic or epigenetic markers, eliminating “unnecessary” colonoscopies, the committee said in its report.

One major challenge in CTC interpretation, however, is the presence of significant extracolonic findings in 4.5%–12% of procedures. Direct costs would rise rapidly if all CTCs must be reviewed by radiologists for extracolonic findings after a CTC-trained gastroenterologist has reviewed the colon, the report stated.

Gastroenterologists overall may modify their scope of practice by offering services that don't require extensive retraining. Obesity care may already be too competitive a niche for gastroenterologists to claim, according to those interviewed for this article, but they largely agreed with the committee's conclusion that obesity treatment is a “natural opportunity” for gastroenterologists, especially those who are willing to be part of a multidisciplinary team.

The demand for physicians to treat functional and motility disorders is likely to increase as the population ages. New tools on the horizon should expand and improve the evaluation and management of these disorders.

The same holds true for hepatitis C therapy. “We're only at the tip of the iceberg in taking care of patients with hepatitis C and chronic liver disease,” Dr. Frakes said.

As the committee points out in its report, however, limited reimbursement for such labor-intensive cognitive services means that midlevel providers increasingly will need to be utilized to make services effective and financially viable.

In response to new technologies and expected decreases in reimbursement for “traditional” procedures, gastroenterologists “will need to change what they do, where they practice, and how they practice,” according to a report issued by the American Gastroenterological Association Institute's Future Trends Committee.

Above all, computed tomographic colonography (CTC) “is likely to become an accepted colorectal cancer screening option within 3 years,” said the report, which was based on expert presentations at a conference convened last spring.

To maintain their practices, gastroenterologists will need to consider new services, which could include providing and interpreting CTC, obesity care, gastroenterological cancer treatment, and natural orifice transluminal endoscopic surgery.

Chronic or difficult-to-treat conditions, like hepatitis and motility and functional disorders, might also assume a bigger role in practice. Nurse-practitioners and physician assistants will likely play larger roles as gastroenterologists “embrace and act on the philosophy that the gastroenterologist is the leader and manager, and not necessarily the direct provider” of digestive disease care, according to the report (Gastroenterology 2006;131:1287–312).

Dr. Timothy C. Wang, who chaired the 10-member consensus development panel, said that CTC will likely be the first technology to take a share of colorectal cancer screening, but that members found it “difficult to predict what percentage of the screening market will shift to CTC.

“Further studies will likely show that CTC is comparable to optical colonoscopy in terms of sensitivity and specificity; however, other advances also may prove to detect polyps.” Also, gastroenterologists “should not completely cede colon imaging to radiologists,” said Dr. Wang, chief of the division of digestive and liver diseases at Columbia University, New York. Some gastroenterology groups have expressed interest in purchasing CT scanners, and the committee recommended that the American Gastroenterological Association (AGA) Institute develop training programs for CTC interpretation.

Gastroenterologists contacted for their perspectives on the report called the conclusions provocative but differed about whether the report is realistic or alarmist.

The report “is thorough and thought provoking … and anything that the AGA Institute can do to raise the level of thought and discussion is laudable,” said Dr. Ronald Vender, professor of medicine at Yale University, New Haven, Conn. “I think the impact [of CTC and other changes] will be much less than they're predicting,” he said, especially when considered from a cost-benefit perspective.

“Colonoscopy rates will probably go up rather than down,” commented Dr. James T. Frakes, professor of medicine at the University of Illinois, Rockford. “But even it that's not the case, gastroenterologists should always be looking for ways to improve and broaden their services,” he said.

“Colonoscopy has become the tail that's wagged the dog,” Dr. John L. Petrini of Sansum Clinic in Santa Barbara, Calif., said. “It's become a huge part of what we do, and I'm not sure it's going to stay that way. … But I don't think that CTC is going to be the one that's a keeper.”

Optical colonoscopy also is getting better, and lesions can be removed immediately in patients who are found to have adenomatous polyps during screening. Avoiding the need for a second procedure makes optical colonoscopy a cost-effective, attractive screening option, he said.

Many patients, said Dr. Douglas K. Rex, professor of medicine at Indiana University, Indianapolis, “will be disillusioned if they have a polyp and have to go on to have another test. … Americans like effectiveness. There will be other effective devices, but it's going to be hard for them to be as effective as colonoscopy.”

There also “hasn't been adequate discussion or education of the public regarding the potential risks of radiation” associated with screening CTC, he added.

Technologies ranging from wireless capsule endoscopy to simplified endoscopes will allow generalists and even nonphysician providers to perform colon surveillance. And over the long term, it will become possible to stratify cancer risk through serum-based proteomics, for example, and genetic or epigenetic markers, eliminating “unnecessary” colonoscopies, the committee said in its report.

One major challenge in CTC interpretation, however, is the presence of significant extracolonic findings in 4.5%–12% of procedures. Direct costs would rise rapidly if all CTCs must be reviewed by radiologists for extracolonic findings after a CTC-trained gastroenterologist has reviewed the colon, the report stated.

Gastroenterologists overall may modify their scope of practice by offering services that don't require extensive retraining. Obesity care may already be too competitive a niche for gastroenterologists to claim, according to those interviewed for this article, but they largely agreed with the committee's conclusion that obesity treatment is a “natural opportunity” for gastroenterologists, especially those who are willing to be part of a multidisciplinary team.

The demand for physicians to treat functional and motility disorders is likely to increase as the population ages. New tools on the horizon should expand and improve the evaluation and management of these disorders.

The same holds true for hepatitis C therapy. “We're only at the tip of the iceberg in taking care of patients with hepatitis C and chronic liver disease,” Dr. Frakes said.

As the committee points out in its report, however, limited reimbursement for such labor-intensive cognitive services means that midlevel providers increasingly will need to be utilized to make services effective and financially viable.

In response to new technologies and expected decreases in reimbursement for “traditional” procedures, gastroenterologists “will need to change what they do, where they practice, and how they practice,” according to a report issued by the American Gastroenterological Association Institute's Future Trends Committee.

Above all, computed tomographic colonography (CTC) “is likely to become an accepted colorectal cancer screening option within 3 years,” said the report, which was based on expert presentations at a conference convened last spring.

To maintain their practices, gastroenterologists will need to consider new services, which could include providing and interpreting CTC, obesity care, gastroenterological cancer treatment, and natural orifice transluminal endoscopic surgery.

Chronic or difficult-to-treat conditions, like hepatitis and motility and functional disorders, might also assume a bigger role in practice. Nurse-practitioners and physician assistants will likely play larger roles as gastroenterologists “embrace and act on the philosophy that the gastroenterologist is the leader and manager, and not necessarily the direct provider” of digestive disease care, according to the report (Gastroenterology 2006;131:1287–312).

Dr. Timothy C. Wang, who chaired the 10-member consensus development panel, said that CTC will likely be the first technology to take a share of colorectal cancer screening, but that members found it “difficult to predict what percentage of the screening market will shift to CTC.

“Further studies will likely show that CTC is comparable to optical colonoscopy in terms of sensitivity and specificity; however, other advances also may prove to detect polyps.” Also, gastroenterologists “should not completely cede colon imaging to radiologists,” said Dr. Wang, chief of the division of digestive and liver diseases at Columbia University, New York. Some gastroenterology groups have expressed interest in purchasing CT scanners, and the committee recommended that the American Gastroenterological Association (AGA) Institute develop training programs for CTC interpretation.

Gastroenterologists contacted for their perspectives on the report called the conclusions provocative but differed about whether the report is realistic or alarmist.

The report “is thorough and thought provoking … and anything that the AGA Institute can do to raise the level of thought and discussion is laudable,” said Dr. Ronald Vender, professor of medicine at Yale University, New Haven, Conn. “I think the impact [of CTC and other changes] will be much less than they're predicting,” he said, especially when considered from a cost-benefit perspective.

“Colonoscopy rates will probably go up rather than down,” commented Dr. James T. Frakes, professor of medicine at the University of Illinois, Rockford. “But even it that's not the case, gastroenterologists should always be looking for ways to improve and broaden their services,” he said.

“Colonoscopy has become the tail that's wagged the dog,” Dr. John L. Petrini of Sansum Clinic in Santa Barbara, Calif., said. “It's become a huge part of what we do, and I'm not sure it's going to stay that way. … But I don't think that CTC is going to be the one that's a keeper.”

Optical colonoscopy also is getting better, and lesions can be removed immediately in patients who are found to have adenomatous polyps during screening. Avoiding the need for a second procedure makes optical colonoscopy a cost-effective, attractive screening option, he said.

Many patients, said Dr. Douglas K. Rex, professor of medicine at Indiana University, Indianapolis, “will be disillusioned if they have a polyp and have to go on to have another test. … Americans like effectiveness. There will be other effective devices, but it's going to be hard for them to be as effective as colonoscopy.”

There also “hasn't been adequate discussion or education of the public regarding the potential risks of radiation” associated with screening CTC, he added.

Technologies ranging from wireless capsule endoscopy to simplified endoscopes will allow generalists and even nonphysician providers to perform colon surveillance. And over the long term, it will become possible to stratify cancer risk through serum-based proteomics, for example, and genetic or epigenetic markers, eliminating “unnecessary” colonoscopies, the committee said in its report.

One major challenge in CTC interpretation, however, is the presence of significant extracolonic findings in 4.5%–12% of procedures. Direct costs would rise rapidly if all CTCs must be reviewed by radiologists for extracolonic findings after a CTC-trained gastroenterologist has reviewed the colon, the report stated.

Gastroenterologists overall may modify their scope of practice by offering services that don't require extensive retraining. Obesity care may already be too competitive a niche for gastroenterologists to claim, according to those interviewed for this article, but they largely agreed with the committee's conclusion that obesity treatment is a “natural opportunity” for gastroenterologists, especially those who are willing to be part of a multidisciplinary team.

The demand for physicians to treat functional and motility disorders is likely to increase as the population ages. New tools on the horizon should expand and improve the evaluation and management of these disorders.

The same holds true for hepatitis C therapy. “We're only at the tip of the iceberg in taking care of patients with hepatitis C and chronic liver disease,” Dr. Frakes said.

As the committee points out in its report, however, limited reimbursement for such labor-intensive cognitive services means that midlevel providers increasingly will need to be utilized to make services effective and financially viable.

Pediatric emergency medicine has grown to become the third most popular pediatric subspecialty choice, but experts say the reasons are unclear.

Since 1997, the year in which the American Board of Pediatrics (ABP) began tracking subspecialty fellows in all training programs, the number of fellows enrolled in pediatric emergency medicine (EM) programs has increased by 64%, from 197 fellows in the 1997–1998 training year to 323 fellows in the 2005–2006 year. Approximately 1,300 physicians are now certified in the subspeciality by the ABP.

The data, which provide a “supply-side” perspective only, were released by the ABP as part of a series on workforce trends.

Dr. Aaron Friedman, who chairs the American Academy of Pediatrics Committee on the Pediatric Workforce, said the increasing interest in emergency medicine is not surprising but, on the other hand, it is not well understood.

“This isn't just a pediatrics issue. Medical students are choosing this direction [of emergency medicine] more than they did 10 years ago, and there's speculation about why students are interested in it. Is it [about] lifestyle issues, for instance, or [being on] call? We really don't know,” said Dr. Friedman, of Brown University, Providence, R.I. “We also don't know whether going into a pediatrics residency and then going into an emergency medicine subspecialty was a choice these students made initially,” he said in an interview.

Research into general pediatrics has shown an increasing trend toward part-time work, according to the ABP report, but there “are no current data to indicate this is the case in pediatric emergency medicine.”

The percentage of women fellows is at a peak of about 56%, but overall the proportion of male to female physicians in pediatric EM has not changed drastically, wrote report authors Linda A. Althouse, Ph.D., and Dr. James A. Stockman III (J. Pediatr. 2006;149:600–2). Similarly, the percentage of fellows who are U.S. medical school graduates has remained “relatively steady,” above 80% since 1997.

It also is not clear what the demand is for pediatric EM physicians, Dr. Friedman said. The ABP report points out that six states do not currently have a practicing ABP-certified pediatric EM physician, and that more than half of the states have a pediatric EM physician-to-child ratio of at least 1:100,000 (see chart).

The ABP's new training data capture emergency medicine physicians as well as pediatricians. However, the report indicates that the pediatric emergency medicine certificate, which the ABP established in collaboration with the American Board of Emergency Medicine more than 15 years ago, is clearly more popular among pediatricians. Whereas the ABEM has thus far awarded approximately 170 certificates to emergency medicine physicians, the ABP has certified 1,300 physicians to date, the report says.

Overall, the ABP and ABEM use similar eligibility criteria, and candidates applying to either board are given the same exam. ABEM does require 2 years of fellowship while ABP requires 3 years to cover an ABP research requirement, said Lee Currin, manager of credentialing and examinations administration at the ABP.

Elsevier Global Medical News

Pediatric emergency medicine has grown to become the third most popular pediatric subspecialty choice, but experts say the reasons are unclear.

Since 1997, the year in which the American Board of Pediatrics (ABP) began tracking subspecialty fellows in all training programs, the number of fellows enrolled in pediatric emergency medicine (EM) programs has increased by 64%, from 197 fellows in the 1997–1998 training year to 323 fellows in the 2005–2006 year. Approximately 1,300 physicians are now certified in the subspeciality by the ABP.

The data, which provide a “supply-side” perspective only, were released by the ABP as part of a series on workforce trends.

Dr. Aaron Friedman, who chairs the American Academy of Pediatrics Committee on the Pediatric Workforce, said the increasing interest in emergency medicine is not surprising but, on the other hand, it is not well understood.

“This isn't just a pediatrics issue. Medical students are choosing this direction [of emergency medicine] more than they did 10 years ago, and there's speculation about why students are interested in it. Is it [about] lifestyle issues, for instance, or [being on] call? We really don't know,” said Dr. Friedman, of Brown University, Providence, R.I. “We also don't know whether going into a pediatrics residency and then going into an emergency medicine subspecialty was a choice these students made initially,” he said in an interview.

Research into general pediatrics has shown an increasing trend toward part-time work, according to the ABP report, but there “are no current data to indicate this is the case in pediatric emergency medicine.”

The percentage of women fellows is at a peak of about 56%, but overall the proportion of male to female physicians in pediatric EM has not changed drastically, wrote report authors Linda A. Althouse, Ph.D., and Dr. James A. Stockman III (J. Pediatr. 2006;149:600–2). Similarly, the percentage of fellows who are U.S. medical school graduates has remained “relatively steady,” above 80% since 1997.

It also is not clear what the demand is for pediatric EM physicians, Dr. Friedman said. The ABP report points out that six states do not currently have a practicing ABP-certified pediatric EM physician, and that more than half of the states have a pediatric EM physician-to-child ratio of at least 1:100,000 (see chart).

The ABP's new training data capture emergency medicine physicians as well as pediatricians. However, the report indicates that the pediatric emergency medicine certificate, which the ABP established in collaboration with the American Board of Emergency Medicine more than 15 years ago, is clearly more popular among pediatricians. Whereas the ABEM has thus far awarded approximately 170 certificates to emergency medicine physicians, the ABP has certified 1,300 physicians to date, the report says.

Overall, the ABP and ABEM use similar eligibility criteria, and candidates applying to either board are given the same exam. ABEM does require 2 years of fellowship while ABP requires 3 years to cover an ABP research requirement, said Lee Currin, manager of credentialing and examinations administration at the ABP.

Elsevier Global Medical News

Pediatric emergency medicine has grown to become the third most popular pediatric subspecialty choice, but experts say the reasons are unclear.

Since 1997, the year in which the American Board of Pediatrics (ABP) began tracking subspecialty fellows in all training programs, the number of fellows enrolled in pediatric emergency medicine (EM) programs has increased by 64%, from 197 fellows in the 1997–1998 training year to 323 fellows in the 2005–2006 year. Approximately 1,300 physicians are now certified in the subspeciality by the ABP.

The data, which provide a “supply-side” perspective only, were released by the ABP as part of a series on workforce trends.

Dr. Aaron Friedman, who chairs the American Academy of Pediatrics Committee on the Pediatric Workforce, said the increasing interest in emergency medicine is not surprising but, on the other hand, it is not well understood.

“This isn't just a pediatrics issue. Medical students are choosing this direction [of emergency medicine] more than they did 10 years ago, and there's speculation about why students are interested in it. Is it [about] lifestyle issues, for instance, or [being on] call? We really don't know,” said Dr. Friedman, of Brown University, Providence, R.I. “We also don't know whether going into a pediatrics residency and then going into an emergency medicine subspecialty was a choice these students made initially,” he said in an interview.

Research into general pediatrics has shown an increasing trend toward part-time work, according to the ABP report, but there “are no current data to indicate this is the case in pediatric emergency medicine.”

The percentage of women fellows is at a peak of about 56%, but overall the proportion of male to female physicians in pediatric EM has not changed drastically, wrote report authors Linda A. Althouse, Ph.D., and Dr. James A. Stockman III (J. Pediatr. 2006;149:600–2). Similarly, the percentage of fellows who are U.S. medical school graduates has remained “relatively steady,” above 80% since 1997.

It also is not clear what the demand is for pediatric EM physicians, Dr. Friedman said. The ABP report points out that six states do not currently have a practicing ABP-certified pediatric EM physician, and that more than half of the states have a pediatric EM physician-to-child ratio of at least 1:100,000 (see chart).

The ABP's new training data capture emergency medicine physicians as well as pediatricians. However, the report indicates that the pediatric emergency medicine certificate, which the ABP established in collaboration with the American Board of Emergency Medicine more than 15 years ago, is clearly more popular among pediatricians. Whereas the ABEM has thus far awarded approximately 170 certificates to emergency medicine physicians, the ABP has certified 1,300 physicians to date, the report says.

Overall, the ABP and ABEM use similar eligibility criteria, and candidates applying to either board are given the same exam. ABEM does require 2 years of fellowship while ABP requires 3 years to cover an ABP research requirement, said Lee Currin, manager of credentialing and examinations administration at the ABP.

Elsevier Global Medical News

A new validated definition of response to therapy in juvenile systemic lupus erythematosus may help standardize the conduct and reporting of clinical trials and help physicians decide whether a child has responded adequately to therapy, authors of the definition reported.

The standard for improvement is set high: Juvenile lupus can be considered to have improved only when the symptoms have lessened by at least 50% in three of five specific outcome measures. The definition of improvement culminates a three-stage process undertaken by the Pediatric Rheumatology International Trials Organization (PRINTO) to develop and validate a set of outcome measures and a definition of clinical improvement that can be used to evaluate “global response” to therapy by a child with systemic lupus erythematosus (SLE).

The definition includes a global measure of SLE activity and measurement of 24-hour proteinuria, but it also considers a physician's subjective assessment of the level of disease activity as well as parent-reported outcomes.

“One of the reasons we don't have drugs approved, for instance, is that we haven't had good methods for assessing drugs in clinical trials,” said Dr. Edward H. Giannini of Children's Hospital Medical Center in Cincinnati, one of the authors and a facilitator of the consensus conference.

PRINTO worked on the definition in conjunction with the Pediatric Rheumatology Collaborative Study Group. The criteria were approved by the American College of Rheumatology board of directors as “provisional,” according to the report (Arthritis Rheum. 2006;55:355–63). “Now the criteria will be used in trials, in larger databases… and we'll look to see whether they continue to be valid,” Dr. Giannini said.

The new criteria define “improvement” in children with juvenile SLE as at least 50% improvement from baseline in any two of the five outcomes measures that were earlier developed and validated by PRINTO, with no more than one of the remaining measures worsening by more than 30%.

The outcomes measures include:

▸ The physician's global assessment of the patient's overall disease activity on a 10-cm visual analog scale.

▸ Global disease activity as measured using the European Consensus Lupus Activity Measurement (ECLAM) tool, the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI), or the Systemic Lupus Activity Measure (SLAM).

▸ Renal involvement as assessed by 24-hour proteinuria.

▸ The parent's global assessment of the child's overall well-being on a 1-cm visual analog scale.

▸ A quality of life assessment using the parent's version of the Child Health Questionnaire (physical summary score).

A new validated definition of response to therapy in juvenile systemic lupus erythematosus may help standardize the conduct and reporting of clinical trials and help physicians decide whether a child has responded adequately to therapy, authors of the definition reported.

The standard for improvement is set high: Juvenile lupus can be considered to have improved only when the symptoms have lessened by at least 50% in three of five specific outcome measures. The definition of improvement culminates a three-stage process undertaken by the Pediatric Rheumatology International Trials Organization (PRINTO) to develop and validate a set of outcome measures and a definition of clinical improvement that can be used to evaluate “global response” to therapy by a child with systemic lupus erythematosus (SLE).

The definition includes a global measure of SLE activity and measurement of 24-hour proteinuria, but it also considers a physician's subjective assessment of the level of disease activity as well as parent-reported outcomes.

“One of the reasons we don't have drugs approved, for instance, is that we haven't had good methods for assessing drugs in clinical trials,” said Dr. Edward H. Giannini of Children's Hospital Medical Center in Cincinnati, one of the authors and a facilitator of the consensus conference.

PRINTO worked on the definition in conjunction with the Pediatric Rheumatology Collaborative Study Group. The criteria were approved by the American College of Rheumatology board of directors as “provisional,” according to the report (Arthritis Rheum. 2006;55:355–63). “Now the criteria will be used in trials, in larger databases… and we'll look to see whether they continue to be valid,” Dr. Giannini said.

The new criteria define “improvement” in children with juvenile SLE as at least 50% improvement from baseline in any two of the five outcomes measures that were earlier developed and validated by PRINTO, with no more than one of the remaining measures worsening by more than 30%.

The outcomes measures include:

▸ The physician's global assessment of the patient's overall disease activity on a 10-cm visual analog scale.

▸ Global disease activity as measured using the European Consensus Lupus Activity Measurement (ECLAM) tool, the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI), or the Systemic Lupus Activity Measure (SLAM).

▸ Renal involvement as assessed by 24-hour proteinuria.

▸ The parent's global assessment of the child's overall well-being on a 1-cm visual analog scale.

▸ A quality of life assessment using the parent's version of the Child Health Questionnaire (physical summary score).

A new validated definition of response to therapy in juvenile systemic lupus erythematosus may help standardize the conduct and reporting of clinical trials and help physicians decide whether a child has responded adequately to therapy, authors of the definition reported.

The standard for improvement is set high: Juvenile lupus can be considered to have improved only when the symptoms have lessened by at least 50% in three of five specific outcome measures. The definition of improvement culminates a three-stage process undertaken by the Pediatric Rheumatology International Trials Organization (PRINTO) to develop and validate a set of outcome measures and a definition of clinical improvement that can be used to evaluate “global response” to therapy by a child with systemic lupus erythematosus (SLE).

The definition includes a global measure of SLE activity and measurement of 24-hour proteinuria, but it also considers a physician's subjective assessment of the level of disease activity as well as parent-reported outcomes.

“One of the reasons we don't have drugs approved, for instance, is that we haven't had good methods for assessing drugs in clinical trials,” said Dr. Edward H. Giannini of Children's Hospital Medical Center in Cincinnati, one of the authors and a facilitator of the consensus conference.

PRINTO worked on the definition in conjunction with the Pediatric Rheumatology Collaborative Study Group. The criteria were approved by the American College of Rheumatology board of directors as “provisional,” according to the report (Arthritis Rheum. 2006;55:355–63). “Now the criteria will be used in trials, in larger databases… and we'll look to see whether they continue to be valid,” Dr. Giannini said.

The new criteria define “improvement” in children with juvenile SLE as at least 50% improvement from baseline in any two of the five outcomes measures that were earlier developed and validated by PRINTO, with no more than one of the remaining measures worsening by more than 30%.

The outcomes measures include:

▸ The physician's global assessment of the patient's overall disease activity on a 10-cm visual analog scale.

▸ Global disease activity as measured using the European Consensus Lupus Activity Measurement (ECLAM) tool, the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI), or the Systemic Lupus Activity Measure (SLAM).

▸ Renal involvement as assessed by 24-hour proteinuria.

▸ The parent's global assessment of the child's overall well-being on a 1-cm visual analog scale.

▸ A quality of life assessment using the parent's version of the Child Health Questionnaire (physical summary score).

A small group of physicians and investigators plan to market a removable tattoo ink next year, and if the ink lives up to the inventors' expectations, physicians will be able to remove permanent tattoos with a single laser treatment.

The ink is made of microencapsulated biocompatible pigments that are absorbed by the body when the capsule—beads of a polymer used in a variety of products approved by the Food and Drug Administration—is broken up by a laser treatment.

“If we can't change the lasers to take the ink out, why don't we change the ink? It's simple. And the inks are safe,” said Dr. Eric F. Bernstein, a dermatologist who runs two centers for cosmetic laser surgery in the Philadelphia area.

Dr. Bernstein joined the company that has been developing the technology, Freedom-2, about 2 years ago and recently completed the first test removal of the ink. “It looks like it's going [to go] away in a single treatment,” he said.

Physicians who routinely use lasers for tattoo removal say it can take anywhere from 6 to 16 sessions, and even then, removal is incomplete and possibly unsafe, given that conventional tattoo inks may contain heavy metals and other toxic and carcinogenic materials.

The market for the ink, which is not regulated by the Food and Drug Administration, could be sizable. According to a recent survey, almost one-quarter of Americans between 18 and 50 years of age are tattooed, and about one-quarter of these men and women had regrets about their tattoos. About 5% had already covered a tattoo with a new tattoo, and another 17% said they were considering tattoo removal (J. Am. Acad. Dermatol. 2006;55:413–21).

The anticipated release of the ink will mark the culmination of years of patent filing and legal haggling, which resulted in the collaboration between Dr. R. Rox Anderson, associate professor of dermatology at Harvard University and laser treatment expert, and two plastic surgery experts, Bruce Klitzman, Ph.D., and Dr. Kim E. Koger, who met at Duke University a decade ago and who developed a removable ink for use in breast reconstruction.

Dr. Klitzman, senior director of the Kenan Plastic Surgery Research Labs at Duke University Medical Center in Durham, N.C., said that he and Dr. Koger, a plastic surgeon, had received a patent for the ink technology in 2000, when they learned that the U.S. patent office was initiating an “interference action” based on the similarities between their patent and another filed by Dr. Anderson.

The parties went before an administrative patent judge, who encouraged them to settle out of court, Dr. Klitzman said.

After about a year, the investigators agreed to merge the two companies they had formed to develop the technology and to use the name of Dr. Anderson's company, Freedom-2, for the new business.

Option Technologies, the company formed by Dr. Klitzman and Dr. Koger, “gave the rights to their invention” to the new company, and Freedom-2 provided all financing, Dr. Klitzman said.

The investigators then collaborated in their research, working to create bioabsorbable pigments that would be coated with a shell that could be disrupted with laser energy.

Dr. Anderson was not available for comment.

Martin Schmeig, president and CEO of the new company, based in West Conshohocken, Pa., said that the tattoo removed by Dr. Bernstein in the first test removal was made with a red-brown iron oxide encapsulated in beads of polymethylmethacrylate (PMMA), a polymer that is used in surgical glues, hip implants, and various other FDA-approved products. Each PMMA “microsphere” contains an absorption pigment that can be targeted by a specific laser wavelength.

Dr. Anderson and his partners are planning to recruit at least 50 people from various ethnic group, to receive test tattoos and over the course of several years, they will look at skin reactions and at the durability and vibrancy of the ink while also testing the removal process.

The long-term studies will enable the company to “build a data profile” for the FDA and European regulators, should they become interested in regulating tattoos in the future. “The Europeans are ahead of the FDA in thinking about” this, Mr. Schmeig said. “They're starting to … get concerned about ink components.”

In the meantime, the company plans to market the ink in 2007, releasing it color by color. Black, the color that is least difficult to remove with a laser, will be released first.

Mr. Schmeig said it may take time for tattoo artists to change their practices and start using the ink. He said his company envisioned a consumer-driven change, that would be achieved by targeting most of its marketing toward tattoo seekers.

The company's goal for artists, meanwhile, would be “to make sure the ink acts and performs exactly like the [current] inks,” he said.

A small group of physicians and investigators plan to market a removable tattoo ink next year, and if the ink lives up to the inventors' expectations, physicians will be able to remove permanent tattoos with a single laser treatment.

The ink is made of microencapsulated biocompatible pigments that are absorbed by the body when the capsule—beads of a polymer used in a variety of products approved by the Food and Drug Administration—is broken up by a laser treatment.

“If we can't change the lasers to take the ink out, why don't we change the ink? It's simple. And the inks are safe,” said Dr. Eric F. Bernstein, a dermatologist who runs two centers for cosmetic laser surgery in the Philadelphia area.

Dr. Bernstein joined the company that has been developing the technology, Freedom-2, about 2 years ago and recently completed the first test removal of the ink. “It looks like it's going [to go] away in a single treatment,” he said.

Physicians who routinely use lasers for tattoo removal say it can take anywhere from 6 to 16 sessions, and even then, removal is incomplete and possibly unsafe, given that conventional tattoo inks may contain heavy metals and other toxic and carcinogenic materials.

The market for the ink, which is not regulated by the Food and Drug Administration, could be sizable. According to a recent survey, almost one-quarter of Americans between 18 and 50 years of age are tattooed, and about one-quarter of these men and women had regrets about their tattoos. About 5% had already covered a tattoo with a new tattoo, and another 17% said they were considering tattoo removal (J. Am. Acad. Dermatol. 2006;55:413–21).

The anticipated release of the ink will mark the culmination of years of patent filing and legal haggling, which resulted in the collaboration between Dr. R. Rox Anderson, associate professor of dermatology at Harvard University and laser treatment expert, and two plastic surgery experts, Bruce Klitzman, Ph.D., and Dr. Kim E. Koger, who met at Duke University a decade ago and who developed a removable ink for use in breast reconstruction.

Dr. Klitzman, senior director of the Kenan Plastic Surgery Research Labs at Duke University Medical Center in Durham, N.C., said that he and Dr. Koger, a plastic surgeon, had received a patent for the ink technology in 2000, when they learned that the U.S. patent office was initiating an “interference action” based on the similarities between their patent and another filed by Dr. Anderson.

The parties went before an administrative patent judge, who encouraged them to settle out of court, Dr. Klitzman said.

After about a year, the investigators agreed to merge the two companies they had formed to develop the technology and to use the name of Dr. Anderson's company, Freedom-2, for the new business.

Option Technologies, the company formed by Dr. Klitzman and Dr. Koger, “gave the rights to their invention” to the new company, and Freedom-2 provided all financing, Dr. Klitzman said.

The investigators then collaborated in their research, working to create bioabsorbable pigments that would be coated with a shell that could be disrupted with laser energy.

Dr. Anderson was not available for comment.

Martin Schmeig, president and CEO of the new company, based in West Conshohocken, Pa., said that the tattoo removed by Dr. Bernstein in the first test removal was made with a red-brown iron oxide encapsulated in beads of polymethylmethacrylate (PMMA), a polymer that is used in surgical glues, hip implants, and various other FDA-approved products. Each PMMA “microsphere” contains an absorption pigment that can be targeted by a specific laser wavelength.

Dr. Anderson and his partners are planning to recruit at least 50 people from various ethnic group, to receive test tattoos and over the course of several years, they will look at skin reactions and at the durability and vibrancy of the ink while also testing the removal process.

The long-term studies will enable the company to “build a data profile” for the FDA and European regulators, should they become interested in regulating tattoos in the future. “The Europeans are ahead of the FDA in thinking about” this, Mr. Schmeig said. “They're starting to … get concerned about ink components.”

In the meantime, the company plans to market the ink in 2007, releasing it color by color. Black, the color that is least difficult to remove with a laser, will be released first.

Mr. Schmeig said it may take time for tattoo artists to change their practices and start using the ink. He said his company envisioned a consumer-driven change, that would be achieved by targeting most of its marketing toward tattoo seekers.

The company's goal for artists, meanwhile, would be “to make sure the ink acts and performs exactly like the [current] inks,” he said.

A small group of physicians and investigators plan to market a removable tattoo ink next year, and if the ink lives up to the inventors' expectations, physicians will be able to remove permanent tattoos with a single laser treatment.

The ink is made of microencapsulated biocompatible pigments that are absorbed by the body when the capsule—beads of a polymer used in a variety of products approved by the Food and Drug Administration—is broken up by a laser treatment.

“If we can't change the lasers to take the ink out, why don't we change the ink? It's simple. And the inks are safe,” said Dr. Eric F. Bernstein, a dermatologist who runs two centers for cosmetic laser surgery in the Philadelphia area.

Dr. Bernstein joined the company that has been developing the technology, Freedom-2, about 2 years ago and recently completed the first test removal of the ink. “It looks like it's going [to go] away in a single treatment,” he said.

Physicians who routinely use lasers for tattoo removal say it can take anywhere from 6 to 16 sessions, and even then, removal is incomplete and possibly unsafe, given that conventional tattoo inks may contain heavy metals and other toxic and carcinogenic materials.

The market for the ink, which is not regulated by the Food and Drug Administration, could be sizable. According to a recent survey, almost one-quarter of Americans between 18 and 50 years of age are tattooed, and about one-quarter of these men and women had regrets about their tattoos. About 5% had already covered a tattoo with a new tattoo, and another 17% said they were considering tattoo removal (J. Am. Acad. Dermatol. 2006;55:413–21).

The anticipated release of the ink will mark the culmination of years of patent filing and legal haggling, which resulted in the collaboration between Dr. R. Rox Anderson, associate professor of dermatology at Harvard University and laser treatment expert, and two plastic surgery experts, Bruce Klitzman, Ph.D., and Dr. Kim E. Koger, who met at Duke University a decade ago and who developed a removable ink for use in breast reconstruction.

Dr. Klitzman, senior director of the Kenan Plastic Surgery Research Labs at Duke University Medical Center in Durham, N.C., said that he and Dr. Koger, a plastic surgeon, had received a patent for the ink technology in 2000, when they learned that the U.S. patent office was initiating an “interference action” based on the similarities between their patent and another filed by Dr. Anderson.

The parties went before an administrative patent judge, who encouraged them to settle out of court, Dr. Klitzman said.

After about a year, the investigators agreed to merge the two companies they had formed to develop the technology and to use the name of Dr. Anderson's company, Freedom-2, for the new business.

Option Technologies, the company formed by Dr. Klitzman and Dr. Koger, “gave the rights to their invention” to the new company, and Freedom-2 provided all financing, Dr. Klitzman said.

The investigators then collaborated in their research, working to create bioabsorbable pigments that would be coated with a shell that could be disrupted with laser energy.

Dr. Anderson was not available for comment.

Martin Schmeig, president and CEO of the new company, based in West Conshohocken, Pa., said that the tattoo removed by Dr. Bernstein in the first test removal was made with a red-brown iron oxide encapsulated in beads of polymethylmethacrylate (PMMA), a polymer that is used in surgical glues, hip implants, and various other FDA-approved products. Each PMMA “microsphere” contains an absorption pigment that can be targeted by a specific laser wavelength.

Dr. Anderson and his partners are planning to recruit at least 50 people from various ethnic group, to receive test tattoos and over the course of several years, they will look at skin reactions and at the durability and vibrancy of the ink while also testing the removal process.

The long-term studies will enable the company to “build a data profile” for the FDA and European regulators, should they become interested in regulating tattoos in the future. “The Europeans are ahead of the FDA in thinking about” this, Mr. Schmeig said. “They're starting to … get concerned about ink components.”

In the meantime, the company plans to market the ink in 2007, releasing it color by color. Black, the color that is least difficult to remove with a laser, will be released first.

Mr. Schmeig said it may take time for tattoo artists to change their practices and start using the ink. He said his company envisioned a consumer-driven change, that would be achieved by targeting most of its marketing toward tattoo seekers.

The company's goal for artists, meanwhile, would be “to make sure the ink acts and performs exactly like the [current] inks,” he said.