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"Half of Women With Polycystic Ovary Syndrome Have Rare Variants of a Common Gene"

  • ILF Science
  • New York, NY
  • (April 30, 2019)

Extensive genetic analysis suggests that at least half of women with polycystic ovary syndrome (PCOS) could have rare genetic variants of a common gene involved in hormone production. PCOS is an incurable and poorly understood hormonal disorder in women of reproductive age and is the leading cause of both infertility and type 2 diabetes. It’s unknown what causes the disorder, but understanding the genetic mechanisms involved could help inform future therapies and diagnoses, according to a study published in The Journal of Clinical Endocrinology & Metabolism. “Our best understanding now is this strong susceptibility of PCOS,” said lead researcher Andrea Dunaif, MD, chief of the Hilda and J. Lester division of endocrinology, diabetes and bone disease at the Icahn School of Medicine at Mount Sinai. “It’s very, very common and that’s why we see so much of it. The hope would be that with genetic testing we may be able to identify high-risk people and start measures early.” She added that understanding the genetic factors that contribute to PCOS could help predict who is going to get PCOS or a certain subset of it, as well as lead to targeted personalized therapies.

— Andrea Dunaif, MD, Chief, Hilda and J. Lester Gabrilove Division of Endocrinology, Diabetes and Bone Disease, Icahn School of Medicine at Mount Sinai and Mount Sinai Health System

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