Steroid 11β-hydroxylase deficiency and related disorders

P. C. White, P. W. Speiser

Research output: Contribution to journalReview article

39 Scopus citations

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 - Jan 1 1994

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Fingerprint Dive into the research topics of 'Steroid 11β-hydroxylase deficiency and related disorders'. Together they form a unique fingerprint.

  • Cite this