" /> Pseudovaginal perineoscrotal hypospadias - CISMeF





Preferred Label : Pseudovaginal perineoscrotal hypospadias;

Symbol : PPSH;

CISMeF acronym : PPSH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Male pseudohermaphroditism due to 5-alpha-reductase deficiency; Familial incomplete male pseudohermaphroditism, type 2;

Included titles and symbols : Micropenis;

Description : Pseudovaginal perineoscrotal hypospadias 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.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the 5-alpha-reductase-2 gene (SRD5A2, 607306.0001);

Laboratory abnormalities : 5-alpha-reductase-2 enzyme deficiency;

Prefixed ID : #264600;

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26/07/2025


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