A case of Klinefelter syndrome with retroperitoneal teratoma.
10.3349/ymj.2000.41.1.136
- Author:
Dongeun YONG
1
;
Jae Gyun LIM
;
Jong Rak CHOI
;
Quehn PARK
;
Chang Hyun YANG
;
Seung Hoon CHOI
;
Hyeon Joo JEONG
;
Kyung Soon SONG
Author Information
1. Department of Clinical Pathology, Yonsei University College of Medicine, Seoul, Korea. deyong@hanmir.com
- Publication Type:Case Report
- Keywords:
Klinefelter syndrome;
germ cell tumor;
teratoma;
retroperitoneal
- MeSH:
Case Report;
Human;
Infant;
Karyotyping;
Klinefelter's Syndrome/genetics;
Klinefelter's Syndrome/complications*;
Male;
Retroperitoneal Neoplasms/pathology;
Retroperitoneal Neoplasms/complications*;
Teratoma/pathology;
Teratoma/etiology*
- From:Yonsei Medical Journal
2000;41(1):136-139
- CountryRepublic of Korea
- Language:English
-
Abstract:
Klinefelter syndrome (KS) is often associated with various neoplasms, especially germ cell tumors. Mediastinum is the most favored site of extragonadal germ cell tumors with KS, which is somewhat different from those without KS. The retroperitoneal germ cell tumor in KS is very rare. A five-month-old boy with an abdominal mass was found to have a retroperitoneal tumor. After surgical removal, he was diagnosed to have mature cystic teratoma. Cytogenetic study of his peripheral lymphocytes revealed that his karyotype was consistent with KS. This case suggests that patients with KS might be at risk of having germ cell tumors in sites other than mediastinum. It also suggests that all cases with these tumors should be screened for the presence of karyotypic abnormalities, and it might help to assess the exact correlation between germ cell tumors and KS, and to treat them accordingly.
