Abstract
Background: HAIR-AN (HyperAndrogenism, Insulin Resistance and Acanthosis Nigricans), a subphenotype seen in 5-10% of women with polycystic ovary syndrome (PCOS), is characterized by menstrual irregularity, markedly elevated testosterone and severe hyperinsulinemia. In this pilot study, we describe the clinical utility of whole exome sequencing (WES) in 4 unrelated patients with HAIR-AN syndrome. Therapy was informed by genotype.
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