Article
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.
Lancet (London, England) - 26 Jun 2004
Arlt Wiebke, Walker Elizabeth A, Draper Nicole, Ivison Hannah E, Ride Jon P, Hammer Fabian, Chalder Susan M, Borucka-Mankiewicz Maria, Hauffa Berthold P, Malunowicz Ewa M, Stewart Paul M, Shackleton Cedric H L
Abstract excerpt
BACKGROUND: Congenital adrenal hyperplasia with apparent combined P450C17 and P450C21 deficiency is associated with accumulation of steroid metabolites, indicating impaired activity of 17alpha-hydroxylase and 21-hydroxylase. However, no mutations have been reported in the CYP17 and CYP21 genes, which encode these P450 enzymes. Affected girls are born with ambiguous genitalia, but their circulating androgens are...
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