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"Study Probes Rare Adrenal Disorder Tied to Gender Ambiguity"

  • Medscape
  • New York, NY
  • (February 06, 2017)

A new study of the largest international cohort of 108 patients with congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency sheds light on the characteristics of this rare genetic disease. The treatable disease, which typically presents as ambiguous genitalia in newborn girls or precocious puberty in boys, is also characterized by "old" bones, short stature, and hypertension. The study by Ahmed Khattab, MD, an assistant professor of pediatrics at the Icahn School of Medicine at Mount Sinai and colleagues was published online in the Proceedings of the National Academy of Sciences. It "is a significant contribution that gives the endocrine world a detailed description of the genetics and of the clinical spectrum of 11β-hydroxylase deficiency, which is treatable," observed senior author, Maria New, MD, a professor of genetics and genomic sciences and endocrinology at the Icahn School of Medicine at Mount Sinai. Learn more.