Adrenal steroidogenesis and congenital adrenal hyperplasia

Endocrinol Metab Clin North Am. 2015 Jun;44(2):275-96. doi: 10.1016/j.ecl.2015.02.002.


Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids (primarily aldosterone), glucocorticoids (primarily cortisol), and adrenal androgens (primarily dehydroepiandrosterone and its sulfate) occur in separate adrenal cortical zones, each expressing specific enzymes. Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal-recessive enzymatic defects in cortisol biosynthesis. 21-Hydroxylase (21OHD) deficiency accounts for more than 90% of CAH cases and, when milder or nonclassic forms are included, 21OHD is one of the most common genetic diseases.

Keywords: 21-Hydroxylase; Adrenal insufficiency; Ambiguous genitalia; Androgen; Congenital adrenal hyperplasia; Disorder of sex development; Steroid hydroxylase; Steroidogenesis.

Publication types

  • Review

MeSH terms

  • Adrenal Cortex Neoplasms / epidemiology
  • Adrenal Hyperplasia, Congenital / drug therapy
  • Adrenal Hyperplasia, Congenital / epidemiology
  • Adrenal Hyperplasia, Congenital / metabolism*
  • Adrenocortical Adenoma / epidemiology
  • Aldosterone / biosynthesis
  • Androgens / biosynthesis*
  • Dehydroepiandrosterone / biosynthesis
  • Dehydroepiandrosterone Sulfate / metabolism
  • Glucocorticoids / biosynthesis*
  • Glucocorticoids / therapeutic use
  • Hormone Replacement Therapy
  • Humans
  • Hydrocortisone / biosynthesis
  • Mineralocorticoids / biosynthesis*
  • Mineralocorticoids / therapeutic use
  • Myelolipoma / epidemiology
  • Risk Factors


  • Androgens
  • Glucocorticoids
  • Mineralocorticoids
  • Dehydroepiandrosterone
  • Aldosterone
  • Dehydroepiandrosterone Sulfate
  • Hydrocortisone

Supplementary concepts

  • Congenital adrenal hyperplasia due to 21 hydroxylase deficiency