pseudovaginal perineoscrotal hypospadias
MIM.264600 2p23
Definition: Pseudovaginal perineoscrotal hypopadias is 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.
Etiology
pseudovaginal perineoscrotal hypospadias is caused by mutation in the steroid 5-alpha-reductase-2 gene (SRD5A2) (MIM.607306).