46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
Findings
No curated finding names 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009923), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the endocrine systemHPOHP:0000818
- Very frequent (80% to 99% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Very frequent (80% to 99% of cases)
- Ambiguous genitalia, maleHPOHP:0000033
- Very frequent (80% to 99% of cases)
- Bifid scrotumHPOHP:0000048
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Decreased fertilityHPOHP:0000144
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SRD5A2HGNC:11285
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- Also called
- 3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency46,XY DSD due to 5-alpha-reductase 2 deficiency5 Alpha steroid reductase 2 deficiencyMale pseudohermaphroditism due to 5-alpha-reductase 2 deficiencypseudovaginal perineoscrotal hypospadiassteroid 5-alpha-reductase deficiency