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46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

Disease definition

46, XY disorder of sex development (DSD; see this term) due to 5-alpha-reductase 2 (SRD5A2) deficiency is a disorder of sex development due to a defect in testosterone (T) metabolism resulting in incomplete intrauterine masculinization. Patients present an ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias (see this term) or only micropenis.

ORPHA:753

  • Synonym(s):
    • 46,XY DSD due to 5-alpha-reductase 2 deficiency
    • Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
    • Pseudovaginal perineoscrotal hypospadias
    • Steroid 5-alpha-reductase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy, Adolescent
  • ICD-10: Q56.1
  • OMIM: 264600
  • UMLS: C0268297  C3669122
  • MeSH: -
  • GARD: 5680
  • MedDRA: 10000029
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