[11beta-hydroxylase deficiency]

Arq Bras Endocrinol Metabol. 2004 Oct;48(5):713-23. doi: 10.1590/s0004-27302004000500018. Epub 2005 Mar 7.
[Article in Portuguese]

Abstract

Congenital adrenal hyperplasia due to 11beta-hydroxylase enzyme deficiency is a result of the impairment of 11-deoxycortisol to cortisol conversion. In general, it is responsible for less than 5% of the congenital adrenal hyperplasia cases. The clinical expression of androgen excess in females includes several degrees of genital ambiguity, varying from clitoromegaly to complete virilization. Due to the accumulation of mineralocorticoids, approximately 50% of the patients develop blood hypertension. Mutations in the CYP11B1 gene are responsible for the disease. Biochemical and molecular characteristics of the enzyme and their implications in the clinical presentation of 11beta-hydroxylase deficiency are reviewed here.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adrenal Hyperplasia, Congenital* / diagnosis
  • Adrenal Hyperplasia, Congenital* / drug therapy
  • Adrenal Hyperplasia, Congenital* / genetics
  • Adrenal Hyperplasia, Congenital* / metabolism
  • Humans
  • Isoenzymes / genetics
  • Isoenzymes / metabolism
  • Steroid 11-beta-Hydroxylase / genetics
  • Steroid 11-beta-Hydroxylase / metabolism

Substances

  • Isoenzymes
  • Steroid 11-beta-Hydroxylase