Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

What is Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency?

A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenia.

Other condition names

  • Classic 21-OHD CAH

Inheritance type

Autosomal recessive

Prevalence

  • Europe: 1-9 in 100,000

Age of Onset

  • Adolescent
  • Adult
  • Antenatal
  • Childhood
  • Infancy
  • Neonatal
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