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

Disease definition

A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.


Classification level: Disorder
  • Synonym(s):
    • 46,XY DSD due to 5-alpha-reductase 2 deficiency
    • Pseudovaginal perineoscrotal hypospadias
    • Steroid 5-alpha-reductase 2 deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Neonatal, Infancy, Adolescent
  • ICD-10: E29.1
  • ICD-11: LD2A.3
  • OMIM: 264600
  • UMLS: C0268297
  • MeSH: -
  • GARD: 5680
  • MedDRA: 10000029
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