Polycystic ovary syndrome: evidence for a primary disorder of ovarian steroidogenesis

Polycystic ovary syndrome (PCOS) is a very common endocrinopathy of uncerta in aetiology in which the most consistent biochemical abnormality is hypers ecretion of androgens. In this review, evidence is presented to support the view that a primary abnormality of ovarian androgen biosynthesis provides the basis for the syndrome. PCOS is a familiar disorder and we demonstrate, in molecular genetic studies, that CYP11a, the gene coding for P450 side c hain cleavage, is a key susceptibility locus for development of hyperandrog enism. (C) 1999 Published by Elsevier Science Ltd. All rights reserved.