Steroid 11β-hydroxylase deficiency and related steroid

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Abstract

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 languageEnglish (US)
Pages (from-to)61-79
Number of pages19
JournalEndocrinology and Metabolism Clinics of North America
Volume30
Issue number1
DOIs
StatePublished - Jan 1 2001

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ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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