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

Orpha number ORPHA753
Synonym(s) Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
Prevalence Unknown
Inheritance
  • Autosomal dominant
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q56.1
OMIM
UMLS -
MeSH -
MedDRA
  • 10000029
SNOMED CT
  • 57514000

Summary

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 metabolism resulting in incomplete intrauterine masculinization. Patients present ambiguous external genitalia which varies from a female with a blind vaginal pouch to a fully male phenotype with pseudovaginal perineoscrotal hypospadias) or only micropenis.


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