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46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
rareA 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.
- Identifiers
- MONDO:0009923 OMIM:264600Orphanet:753
- Causal genes
- SRD5A2
- Part of
- 46 XY differences of sex developmentDevelopmental anomaly of metabolic originInherited lipid metabolism disorder
- Also known as
- 3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency · 46,XY DSD due to 5-alpha-reductase 2 deficiency · 5 Alpha steroid reductase 2 deficiency · 5-alpha reductase deficiency · Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency
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