Classic congenital adrenal hyperplasia

Tidsskr Nor Laegeforen. 2017 Apr 4;137(7):540-543. doi: 10.4045/tidsskr.16.0376. eCollection 2017 Apr.
[Article in English, Norwegian]

Abstract

Congenital adrenal hyperplasia is attributed to inherited enzyme defects in the adrenal cortex. The classical form results in reduced production of cortisol and aldosterone, accompanied by an increase in production of adrenal cortical androgens. This causes virilisation in girls, adrenocortical failure and early puberty in both sexes. This article describes the genetics, clinical picture, diagnostics and treatment.

Publication types

  • Review

MeSH terms

  • Adrenal Hyperplasia, Congenital* / complications
  • Adrenal Hyperplasia, Congenital* / diagnosis
  • Adrenal Hyperplasia, Congenital* / drug therapy
  • Adrenal Hyperplasia, Congenital* / genetics
  • Female
  • Glucocorticoids / administration & dosage
  • Glucocorticoids / therapeutic use
  • Humans
  • Male
  • Puberty, Precocious / etiology
  • Steroid 21-Hydroxylase / genetics
  • Virilism / etiology

Substances

  • Glucocorticoids
  • Steroid 21-Hydroxylase