Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Disease Synonyms 46,XY DSD due to 5-alpha-reductase 2 deficiency Niedobór 5-alfa-reduktazy steroidowej Pseudohermafrodytyzm męski spowodowany niedoborem 5-alfa-reduktazy 2 ZRP 46,XY spowodowane niedoborem 5-alfa-reduktazy 2 Pseudovaginal perineoscrotal hypospadias Steroid 5-alpha-reductase 2 deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ORPHA code 753 OMIM code 264600 ICD10 code E29.1 ICD11 code LD2A.3 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl