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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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

A disorder that is the most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and 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
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.