Pseudovaginal perineoscrotal hypospadias. Clinical, endocrinological and biochemical characterization of a patient.
A 16-year-old adolescent with perineal hypospadias, a microphallus, a bifid, labia-like scrotum, a blind-ending vagina and bilaterally undescended testicles is presented. Despite normal development of the Wolffian duct derivatives--deferentography showed that both ejaculatory ducts opened into the urethra--the patient showed severe developmental abnormality of the external genitalia. On endocrinologic investigation, gonadotropin, testosterone and 17 beta-estradiol levels were within normal limits; in a genital skin fibroblast culture testosterone was not reduced into 5 alpha-dihydrotestosterone, however, androgen receptors could be identified. Since this patient was raised as a girl up to the age of 16 and had developed female identity, the patient was further raised as a female. Bilateral orchiectomy was performed and estrogen substitution therapy was started. Clitoroplasty as well as ileal vaginoplasty were performed.
Bartsch
G
G
Department of Urology, University of Innsbruck, Austria.
Decristoforo
A
A
Schweikert
U
U
D000293:Adolescent; D012734:Disorders of Sex Development / Q000150:complications*; D006801:Humans; D007021:Hypospadias / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D008297:Male; D009919:Orchiectomy; D013739:Testosterone / Q000378:metabolism
D013739:Testosterone