Article
Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism.
Human molecular genetics - 1 Mar 1997
Gharani N, Waterworth D M, Batty S, White D, Gilling-Smith C, Conway G S, McCarthy M, Franks S, Williamson R
Abstract excerpt
Biochemical data implicate an underlying disorder of androgen biosynthesis and/or metabolism in the aetiology of polycystic ovary syndrome (PCOS). We have examined the segregation of the genes coding for two key enzymes in the synthesis and metabolism of androgens, cholesterol side chain cleavage (CYP11a) and aromatase (CYP19), with PCOS in 20 multiply-affected families. All analyses excluded CYP19 cosegregation...
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