46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
What is 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency?
A rare difference 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.
Other condition names
- 46,XY DSD due to 5-alpha-reductase 2 deficiency
- Pseudovaginal perineoscrotal hypospadias
- Steroid 5-alpha-reductase deficiency
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: Unknown
Age of Onset
- Adolescent
- Childhood
- Infancy
- Neonatal
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