Mechanical genital maldevelopment presenting as pseudovaginal perineoscrotal hypospadias.
Pseudovaginal perineoscrotal hypospadias is the descriptive terminology of a phenotypic genital abnormality that may develop from multiple etiologic factors, such as defective virilization-masculinization owing to deficient androgenic synthesis, defective androgenic action or mechanical embryologic failure. The case presented herein typifies a mechanical abnormality that results in perineal hypospadias with the appearance of a vaginal introitus but with rectal mucosa incorporated in the urethral opening.
D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000209:etiology* / Q000601:surgery; D005260:Female; D006801:Humans; D007021:Hypospadias / Q000209:etiology; D008297:Male; D012611:Scrotum / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities