Steroid 11β-hydroxylase deficiency and related steroid

Research output: Contribution to journalArticle

68 Citations (Scopus)

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
StatePublished - 2001

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Steroid 11-beta-Hydroxylase
Cytochrome P-450 CYP11B2
Genes
Steroids
Mutation
Biosynthesis
Mixed Function Oxygenases
Aldosterone
Glucocorticoids
Androgens
Hypertension
Congenital Adrenal Hyperplasia
Defects
Genetic Recombination

ASJC Scopus subject areas

  • Endocrinology
  • Biochemistry

Cite this

Steroid 11β-hydroxylase deficiency and related steroid. / White, P. C.

In: Endocrinology and Metabolism Clinics of North America, Vol. 30, No. 1, 2001, p. 61-79.

Research output: Contribution to journalArticle

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