pseudovaginal perineoscrotal hypospadias
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pseudovaginal perineoscrotal hypospadiasA form (OMIM:264600) of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including a severely hypospadiac penis opening onto the perineum and a blind (vagina-like) perineal pouch, and develop masculinisation at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina.
Caused by defects of SRD5A2 , which encodes a microsomal enzyme that converts testosterone into 5-alpha-dihydrotestosterone (DHT) and progesterone and plays a central role in sexual differentiation.