Steroid 11β-hydroxylase deficiency and related disorders

P. C. White, P. W. Speiser

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

Steroid 11β-hydroxylase deficiency is the second most frequent cause of congenital adrenal hyperplasia, the inherited inability to synthesize cortisol. About two thirds of patients with this disorder have hypertension, presumably due to elevated levels of deoxycorticosterone or other metabolites. Signs of androgen excess also often are prominent. This disease is caused by mutations in the CYP11B1 gene, which encodes a mitochondrial cytochrome P450 enzyme. The main treatment is glucocorticoid replacement, which suppresses excessive secretion of mineralocorticoids and androgens by the adrenal cortex.

Original languageEnglish (US)
Pages (from-to)325-339
Number of pages15
JournalEndocrinology and Metabolism Clinics of North America
Volume23
Issue number2
StatePublished - 1994

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Steroid 11-beta-Hydroxylase
Cytochrome P-450 Enzyme System
Androgens
Congenital Adrenal Hyperplasia
Desoxycorticosterone
Mineralocorticoids
Adrenal Cortex
Metabolites
Glucocorticoids
Hydrocortisone
Genes
Hypertension
Mutation
Therapeutics

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology

Cite this

Steroid 11β-hydroxylase deficiency and related disorders. / White, P. C.; Speiser, P. W.

In: Endocrinology and Metabolism Clinics of North America, Vol. 23, No. 2, 1994, p. 325-339.

Research output: Contribution to journalArticle

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