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pseudovaginal perineoscrotal hypospadias

MIM.264600 2p23

Friday 13 June 2003

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).


MIM.264600