Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?

Endocrinol Metab Clin North Am. 2021 Mar;50(1):151-165. doi: 10.1016/j.ecl.2020.10.008. Epub 2021 Jan 9.

Abstract

Congenital adrenal hyperplasia encompasses a group of autosomal recessive defects in cortisol biosynthesis, and 21-hydroxylase deficiency accounts for 95% of such cases. Non-classic 21-hydroxylase deficiency is due to partial enzymatic defects, which present with normal cortisol synthesis, but excessive production of adrenal androgens, including 11-oxygenated androgens. Non-classic 21-hydroxylase deficiency is relatively common, and its phenotype resembles closely that of polycystic ovary syndrome. This review focuses primarily on non-classic 21-hydroxylase deficiency, its clinical features, diagnosis, and management.

Keywords: 21-Hydroxylase deficiency; Adrenal; Adrenal cortex; Androgens; Congenital adrenal hyperplasia.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adrenal Hyperplasia, Congenital* / diagnosis
  • Adrenal Hyperplasia, Congenital* / genetics
  • Adrenal Hyperplasia, Congenital* / therapy
  • Androgens
  • Endocrinologists
  • Female
  • Humans
  • Polycystic Ovary Syndrome* / diagnosis
  • Polycystic Ovary Syndrome* / therapy

Substances

  • Androgens

Supplementary concepts

  • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency