Article
Steroid 11 beta-hydroxylase deficiency and related disorders.
Endocrinology and metabolism clinics of North America - 1 Mar 2001
White P C
Abstract excerpt
Three disorders result from mutations involving two closely linked 11 beta-hydroxylase genes. Steroid 11 beta-hydroxylase deficiency results from mutations in CYP11B1. This is a form of congenital adrenal hyperplasia (CAH) characterized by hypertension and signs of androgen excess. Mutations in CYP11B2 cause aldosterone synthase deficiency, an isolated defect of aldosterone biosynthesis. Recombinations between...
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