46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
What is 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency?
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.