PHENOTYPING KINDRIDS OF FAMILIAL POLYCYSTIC OVARY SYNDROME

Pennsylvania State Univ Hershey Med Ctr, Hershey PA

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Abstract

The overall hypothesis of this proposal is that familial polycystic ovary syndrome (PCOS) is a genetic disorder. PCOS is one of the most common endocrine disorders in women of reproductive age, and is characterized by hyperandrogenic anovulation. Despite over fifty years of research, the etiology is still uncertain. Genetic approaches to the study of the syndrome may isolate one or more candidate genes. However, genetic studies have been limited by the same factors as their clinical counterparts. There is no clinical or biochemical marker that is exclusive to the syndrome and other etiologies of hyperandrogenism must first be excluded. Additionally, the pheotype of women of non-reproductive age and among men is unclear. Clarifying phenotypes will allow assignment of affected status. This is necessary both to perform segrgation analysis for suspected mode of inheritance and eventually for linkage analysis to identify specific genes that may be involved. Our intention is to fully phenotype kindreds with PCOS for the purpose of assigning affected status as a prelude to linkage analysis. We propose to fully phenotype previously identified kindreds of familial PCOS for clinical, biometric and biochemical abnormalities.