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Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Disease definition

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias.

ORPHA:90791

  • Synonym(s):
    • CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E25.0
  • OMIM: 201810
  • UMLS: -
  • MeSH: -
  • GARD: 9152
  • MedDRA: -

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