[XY gonadal dysgenesis (Swyer syndrome) with gonadoblastoma].

Abstract

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.

• Authors: A Lange, P Wieacker, R Schnabel, H U Schweikert, K Schumann
• Journal: Zentralblatt fur Gynakologie (Zentralbl Gynakol) Vol. 120 Issue 11 Pg. 555-8 ( 1998) ISSN: 0044-4197 [Print] Germany
• Vernacular Title: Androgenproduzierendes Gonadoblastom bei reiner XY-Gonadendysgenesie (Swyer-Syndrom).
• PMID: 9880895 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Adolescent
• Disorders of Sex Development (genetics, pathology, surgery)
• Female
• Gonadal Dysgenesis, 46,XY (genetics, pathology)
• Gonadoblastoma (genetics, pathology, surgery)
• Humans
• Male
• Testicular Neoplasms (genetics, pathology, surgery)