Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) (also known as adrenogenital syndrome) is a form of adrenal hyperplasia related to a variety of autosomal recessive disorders in adrenal steroidogenesis; characterized by low cortisol, low aldosterone, and androgen excess. 

  • virilization/genital ambiguity of female fetuses (due to androgen excess ) 
  • electrolyte imbalance related to a salt-losing crisis 
  • dehydration
  • testicular masses

Congenital adrenal hyperplasia is an autosomal recessive disorder of congenital cortisol synthesis enzyme deficiency:

  • 21-alpha-hydroxylase deficiency: ~90% of cases 5
  • 11-beta-hydroxylase deficiency 
  • bilateral enlarged adrenal glands: size criteria are still debated (some suggest limb width >4 mm and length >20 mm)
  • wrinkled surface of adrenals
  • cerebriform pattern of the adrenal glands: characteristic sign
  • normal ultrasound appearances may also be seen
  • testicular masses may be identified representing adrenal rest tissue (see the article on testicular adrenal rests)
  • normal neonatal adrenal: can be differentiated from congenital adrenal hyperplasia (CAH) by the characteristic cerebriform appearance on sonography in CAH
Inborn errors of metabolism

Article information

rID: 31066
Section: Syndromes
Synonyms or Alternate Spellings:
  • Adrenogenital syndrome
  • Congenital adrenal hyperplasia (CAH)
  • Adreno-genital syndrome

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Cases and figures

  • Case 1
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  • Case 2: with female pseudohermaphroditism
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