Journal
ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
Volume 30, Issue 1, Pages 61-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/S0889-8529(08)70019-7
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Funding
- NIDDK NIH HHS [R37 DK37867, R01 DK54408] Funding Source: Medline
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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 these two genes cause glucocorticoid suppressible hyperaldosteronism, an autosomal dominant form of hypertension.
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