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Eur Urol. 1987;13(6):386-9.

Pseudovaginal perineoscrotal hypospadias. Clinical, endocrinological and biochemical characterization of a patient.

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Department of Urology, University of Innsbruck, Austria.


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.

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