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Congenital adrenal hyperplasia

Disease definition

Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.

ORPHA:418

  • Synonym(s):
    • CAH
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E25.0
  • OMIM: 201710  201810  201910  202010  202110  613571
  • UMLS: C0001627
  • MeSH: D000312
  • GARD: 1467
  • MedDRA: 10010323

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