Current Developments in the Molecular Genetics of the Polycystic Ovary Syndrome

Abstract Polycystic ovary syndrome (PCOS) is most likely a complex trait with an oligogenic basis. In this article, we present evidence from molecular genetic studies for involvement of the steroid synthesis gene CYP11a (coding for P450 cholesterol side-chain cleavage) in the aetiology of hyperandrogenism. Variation in the regulatory region of the insulin gene also appears to contribute to the development of PCOS.