PHENOTYPE AND GENOTYPE IN FAMILIAL POLYCYSTIC OVARY SYNDROME

$0M01FY2002RRNIH

Pennsylvania State Univ Hershey Med Ctr, Hershey PA

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Abstract

Polycystic Ovary Syndrome (PCOS) affects 5-10% of women of reproductive age. Recent evidence strongly suggests that there is a genetic defect in insulin action in many PCOS women. This condition may predispose females and other family members to an increased risk for diabetes and heart disease. It is the overall hypothesis of this research that a substantial amount of PCOS and the insulin resistance associated with it has a genetic basis and that there is a male as well as a female phenotype. The purpose of this study is to determine the clinical and biochemical reproductive phenotype in members of PCOS kindred[unreadable]s for subsequent genetic linkage analysis. We will also attempt to determine whether a male, a premenarchal and/or a post-menopausal phenotype exists in familial PCOS. This study is also being performed at the Hershey Campus.

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