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46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

Disease definition

17-beta-hydroxysteroid dehydrogenase isozyme 3 (17betaHSD III) deficiency is a rare disorder leading to male pseudohermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genitalia in 46X,Y males.

ORPHA:752

  • Synonym(s):
    • 17-beta-hydroxysteroid dehydrogenase 3 deficiency
    • 17-ketoreductase deficiency
    • 17-ketosteroidreductase deficiency
    • Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Adolescent
  • ICD-10: E29.1
  • OMIM: 264300
  • UMLS: C0268296
  • MeSH: -
  • GARD: 5659
  • MedDRA: -
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