Polycystic ovary syndrome: evidence for a primary disorder of ovarian steroidogenesis.
Polycystic ovary syndrome (PCOS) is a very common endocrinopathy of uncertain aetiology in which the most consistent biochemical abnormality is hypersecretion 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 chain cleavage, is a key susceptibility locus for development of hyperandrogenism.
Department of Reproductive Science and Medicine, Imperial College School of Medicine, St Mary's Hospital, London, UK.
S
S
Franks
N
N
Gharani
C
C
Gilling-Smith
D000728:Androgens / Q000096:biosynthesis*; D005260:Female; D006801:Humans; D017588:Hyperandrogenism / Q000235:genetics / Q000503:physiopathology; D010053:Ovary / Q000503:physiopathology*; D011085:Polycystic Ovary Syndrome / Q000503:physiopathology*; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics
D000728:Androgens; D013254:Steroid 17-alpha-Hydroxylase