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

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description 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.
Uniprot Description A form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.
Mondo Term and Equivalent IDs
MONDO:0009923:  46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
GARD:0005680: 
MESH:C535830: 
NCIT:C98699: 
Orphanet:753: 
SCTID:57514000: