Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Endocrine. 2017 Jan;55(1):19-36. doi: 10.1007/s12020-016-1189-x. Epub 2016 Dec 7.


Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. It is caused by reduced or absent activity of 11β-hydroxylase (CYP11B1) enzyme and the resultant defects in adrenal steroidogenesis. The most common clinical features of 11 beta-hydroxylase deficiency are ambiguous genitalia, accelerated skeletal maturation and resultant short stature, peripheral precocious puberty and hyporeninemic hypokalemic hypertension. The biochemical diagnosis is based on raised serum 11-deoxycortisol and 11-deoxycorticosterone levels together with increased adrenal androgens. More than 100 mutations in CYP11B1 gene have been reported to date. The level of in-vivo activity of CYP11B1 relates to the degree of severity of 11 beta-hydroxylase deficiency. Clinical management of 11 beta-hydroxylase deficiency can pose a challenge to maintain adequate glucocorticoid dosing to suppress adrenal androgen excess while avoiding glucocorticoid-induced side effects. The long-term outcomes of clinical and surgical management are not well studied. This review article aims to collate the current available data about 11 beta-hydroxylase deficiency and its management.

Keywords: CYP11B1; Complications; Diagnosis; Management.

Publication types

  • Review

MeSH terms

  • Adrenal Hyperplasia, Congenital / diagnosis
  • Adrenal Hyperplasia, Congenital / drug therapy*
  • Adrenal Hyperplasia, Congenital / genetics
  • Adrenal Hyperplasia, Congenital / physiopathology
  • Animals
  • Early Diagnosis
  • Glucocorticoids / adverse effects
  • Glucocorticoids / therapeutic use
  • Hormone Replacement Therapy / adverse effects
  • Humans
  • Hydrocortisone / adverse effects
  • Hydrocortisone / therapeutic use
  • Hypertension / etiology
  • Hypertension / prevention & control
  • Mutation
  • Practice Guidelines as Topic
  • Puberty, Precocious / etiology
  • Puberty, Precocious / prevention & control
  • Severity of Illness Index
  • Steroid 11-beta-Hydroxylase / genetics
  • Steroid 11-beta-Hydroxylase / metabolism


  • Glucocorticoids
  • Steroid 11-beta-Hydroxylase
  • Hydrocortisone

Supplementary concepts

  • Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency