Three disorders result from mutations involving two closely linked 11β-hydroxylase genes. Steroid 11β-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. Recombination between these two genes cause glucocorticoid suppressible hyperaldosteroism, an autosomal dominant form of hypertension.
|Original language||English (US)|
|Number of pages||19|
|Journal||Endocrinology and Metabolism Clinics of North America|
|State||Published - Jan 1 2001|
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism