S. Franks et al., CURRENT DEVELOPMENTS IN THE MOLECULAR-GENETICS OF THE POLYCYSTIC-OVARY-SYNDROME, Trends in endocrinology and metabolism, 9(2), 1998, pp. 51-54
Polycystic ovary syndrome (PCOS) is most likely a complex trait with a
n oligogenic basis. In this article, we present evidence from molecula
r genetic studies for involvement of the steroid synthesis gene CYP11a
(coding for P450 cholesterol side-chain cleavage) in the aetiology of
hyper-androgenism. Variation in the regulatory region of the insulin
gene also appears to contribute to the development of PCOS.