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Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Disease definition

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.

ORPHA:90794

Classification level: Disorder
  • Synonym(s):
    • Classic 21-OHD CAH
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: E25.0
  • OMIM: 201910
  • UMLS: C2936858
  • MeSH: -
  • GARD: 12665
  • MedDRA: -

Detailed information

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