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Start free with Eleplan46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
ORPHA:753Disease
Also called 46,XY DSD due to 5-alpha-reductase 2 deficiency · 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias · Steroid 5-alpha-reductase 2 deficiency
What it is
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.
Key facts
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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