[XY gonadal dysgenesis (Swyer syndrome) with gonadoblastoma].
This is a case report of 46 xy gonadal dysgenesis (Swyer-syndrome) with bilateral androgen producing gonadoblastoma in streak gonads in a 15-year-old patient. The presenting features were: hypergonadotrophic hypogonadism, male pseudohermaphroditism and virilisation. A hypoplastic uterus with normal looking Fallopian tubes and bilateral adnexal tumors were detected through laparoscopy. A laparotomy was performed and the streak gonads with bilateral gonadoblastoma were removed. This led to a normalisation of serum testosterone and serum beta-HCG levels and an amelioration of signs of virilisation. Uterus and fallopian tubes were conserved during the operation. A second look laparoscopy 6 months later showed no evidence of recurrent tumor. No mutation were found in the sex-determining gene (SRY) on DNA-screening using SSCP assay.
Lange
A
A
Gebh. Gyn. Abt. Ev. Krankenhaus Herne, Universität Magdeburg.
Wieacker
P
P
Schnabel
R
R
Schweikert
H U
HU
Schumann
K
K
D000293:Adolescent; D012734:Disorders of Sex Development / Q000235:genetics / Q000473:pathology / Q000601:surgery; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics* / Q000473:pathology; D018238:Gonadoblastoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D008297:Male; D013736:Testicular Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery