Ask the Experts: Pediatric Endocrinology Edition

As the “Year of Endocrinology” continues, part of the celebration involves reaching out to experts and getting their thoughts about the most significant developments in their respective fields.

To commemorate July as “Pediatric Endocrinology Month,” we asked your colleagues what they thought were the most important developments in pediatric endocrinology research or clinical care. We also asked what new discoveries can we expect in the future?

Here are a few of their answers: 

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Stephen LaFranchi, MD
“The first ever guidelines for management of differentiated thyroid cancer in children – from the American Thyroid Association – will significantly impact patient care; the task force concluded that radioactive iodine treatment, previously recommended in essentially all children, should be used in aggressive cases, but is of limited benefit and perhaps harmful in low-risk cases.”
— Stephen LaFranchi, MD, Professor of Pediatrics, Endocrinology, Oregon Health & Science University

 

Stephen Rosenthal, MD
Stephen Rosenthal, MD, President, Pediatric Endocrine Society

“One of the most important recent developments is focused on the care of transgender youth. An increasing number of such youth are seeking medical services to enable the development of physical characteristics consistent with their experienced gender. Medical treatments can be life-saving. While critical data from the Netherlands have informed care, there are many unanswered questions. The NIH is currently funding a multi-center, long-term observational study to optimize medical treatment. [In the near future,] we should expect to increase our understanding of how currently used medical interventions in transgender youth impact bone, brain, fertility, and overall quality of life. Research should also inform [our] understanding of the impact of early social transition in prepubertal youth. We should also expect to have a greater understanding of the biologic underpinnings of gender identity, not to pathologize being transgender, but with the goal of increasing understanding and improving quality of life.”
— Stephen M. Rosenthal, MD, Professor of Pediatrics, Pediatric Endocrinology; Medical Director, Child and Adolescent Gender Center, University of California San Francisco, Benioff Children’s Hospital; President, Pediatric Endocrine Society

Andrew Dauber, MD
Andrew Dauber, MD

“With the advent of next generation sequencing technologies, many previously poorly understood conditions are now being illuminated through the identification of causal genes. This has permeated every area of pediatric endocrinology from the discovery of MKRN3 as a cause of precocious puberty to genes involved in oxidative stress and DNA damage repair (TXNRD2, NNT, and MCM4) causing adrenal insufficiency, and defects in PAPPA2 causing short stature and decreased IGF bioavailability. In the near future, genetic diagnosis will play a growing role in all aspects of pediatric endocrinology. Gene panels are already in routine practice for disorders such as neonatal hyperinsulinism and MODY and will become part of the diagnostic work up for pubertal, adrenal, and growth disorders as well. This increase in genetic testing and research will reveal a wider, milder phenotypic spectrum for genetic endocrine disorders and we will need to grapple with the meaning of genetic test results.”
— Andrew Dauber, MD, MMSc, Assistant Professor, Cincinnati Children’s Hospital

For more information on pediatric endocrinology advancements, check out the Year of Endocrinology calendar page for July

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