Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) 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 salt-losing crisis 
  • dehydration
  • testicular masses

CAH is an autosomal recessive disorder of congenital cortisol synthesis enzyme deficiency:

  • 21 alpha-hydroxylase deficiency: ~ 90% of cases 5
  • 11 beta hydroxylase deficiency 
  • enlarged both adrenal glands: size criteria is still debated (some suggest limb width greater than 4 mm and length greater than 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)

Consider a normal neonatal adrenal: can be differentiated from CAH by the characteristic cerebriform appearance on sonography in CAH. 

Inborn errors of metabolism
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Article information

rID: 31066
System: Urogenital
Section: Gamuts
Synonyms or Alternate Spellings:
  • Congenital adrenal hyperplasia (CAH)
  • CAH
  • Adreno-genital syndrome

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