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

Disease definition

A rare form of congenital adrenal hyperplasia (CAH) due to 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency and characterized by salt-wasting and non-salt wasting CAH with a wide variety of symptoms, including glucocorticoid and mineralocorticoid deficiencies in both sexes. Salt wasting can lead to dehydration and hypotension in the first few weeks of life. Affected males had undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. Females show normal or mildly virilized external genitalia (mild clitoromegaly, labial fusion) due to dehydroepiandrosterone (DHEA) accumulation and conversion to androgens by the normal HSD3B1.

ORPHA:90791

Classification level: Disorder
  • 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
  • ICD-11: 5A71.01
  • OMIM: 201810
  • UMLS: -
  • MeSH: -
  • GARD: 9152
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Italiano (2012) Português (2012) Español (2021) Français (2021) Nederlands (2021) Russian (2012)

Detailed information

General public

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.