Pseudovaginal perineoscrotal hypospadias (PPSH) in sibs.
Pseudovaginal perineoscrotal hypospadias (PPSH) is a descriptive name applied to a specific developmental disorder of sexual development in males. Incomplete masculinization of the external genitals of affected individuals-essentially the only abnormal feature of the syndrome-results in varying degrees of genital ambiguity. Testes are present, however, and generalized virilization occurs at puberty, emphasizing the importance of accurate diagnosis early in life. Our report of three affected sibs born to related parents appears to confirm earlier suggestions that PPSH is a genetic disorder, transmitted in autosomal recessive fashion.
D000328:Adult; D003241:Consanguinity; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D006973:Hypertension / Q000150:complications / Q000235:genetics; D007021:Hypospadias / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree