46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
Synonyms: 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
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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46,XY difference of sex development due to 5-alpha-reductase 2 deficiency?
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