Polycystic Ovary Syndrome Genetics and Treatment Response
Polycystic ovary syndrome (PCOS), which affects 7-10% of reproductive aged women, has
traditionally been classified as a reproductive and dermatologic syndrome because of its
high rate of infertility and the cosmetic complications of hyperandrogenism. However, it has
become increasingly clear that insulin resistance is important in the pathogenesis of the
There are a number of variants that have been determined to be associated with PCOS risk.
The investigators will determine the effect of these variants on the phenotype and response
to treatment in PCOS. Subjects with PCOS will undergo extensive phenotyping including
adipose tissue biopsy, dual energy X-ray absorptiometry (DXA, bone density) scan to examine
adipose stores, an intravenous glucose tolerance test to study insulin sensitivity and beta
cell function, androgen stimulation and inflammatory markers. The phenotyping will be
repeated after 3 months of treatment with metformin. The studies will determine whether the
genotype at PCOS risk variants dictates phenotype and response to treatment with metformin.
Discovering genes involved in the etiology of PCOS will help pull us out of the endless
circle that has characterized our understanding of PCOS pathophysiology for many years. The
proposal also has the potential to illuminate one etiology of insulin resistance, which is
present even in lean women with PCOS, and the impaired glucose tolerance and diabetes found
in over 40% of PCOS patients.
Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
United States: Institutional Review Board
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