Steroid 11β-Hydroxylase Deficiency and Related Disorders

Research output: Chapter in Book/Report/Conference proceedingChapter

6 Scopus citations

Abstract

Humans have two isozymes with 11β-hydroxylase activity that are respectively required for cortisol and aldosterone synthesis. CYP11B1 (11β-hydroxylase) converts 11-deoxycortisol to cortisol and 11-deoxycorticosterone to corticosterone, is expressed at high levels and is regulated by ACTH. CYP11B2 (aldosterone synthase) is normally expressed at low levels and is regulated mainly by angiotensin II and potassium levels. The latter enzyme also has 18-hydroxylase and 18-oxidase activities and thus can synthesize aldosterone from deoxycorticosterone. Mutations in the CYP11B1 gene cause steroid 11β-hydroxylase deficiency, a form of congenital adrenal hyperplasia. Mutations in CYP11B2 result in aldosterone synthase deficiency, which can cause hyponatremia, hyperkalemia and hypovolemia in infancy. These are both recessive disorders. Unequal crossing over between the CYP11B genes can generate a duplicated chimeric gene, causing glucocorticoid-suppressible hyperaldosteronism, an autosomal dominant form of hypertension. Frequent polymorphisms in these genes can affect aldosterone secretion and risk of hypertension.

Original languageEnglish (US)
Title of host publicationGenetic Steroid Disorders
PublisherElsevier Inc.
Pages71-85
Number of pages15
ISBN (Print)9780124160064
DOIs
StatePublished - Sep 2013

Keywords

  • 11β-hydroxylase
  • Aldosterone synthase
  • CYP11B1
  • CYP11B2
  • Congenital adrenal hyperplasia
  • Cortisol
  • Deoxycorticosterone
  • Hypertension

ASJC Scopus subject areas

  • Dentistry(all)
  • Medicine(all)

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