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.

Clinical presentation

  • 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
  • 11-beta-hydroxylase deficiency 

Radiographic features

  • 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)

Differential diagnosis

  • normal neonatal adrenal: can be differentiated from congenital adrenal hyperplasia (CAH) by the characteristic cerebriform appearance on sonography in CAH
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