A case of gonadoblastoma in patient with mixed gonadal dysgenesis.
- Author:
Jooncheol PARK
1
;
Jongin KIM
;
Jungho RHEE
Author Information
1. Department of Obstetrics and Gynecology, School of Medicine, Keimyuong University, Daegu, Korea.
- Publication Type:Case Report
- Keywords:
Mixed gonadal dysgenesis;
Gonadoblastoma;
Y specific PCR
- MeSH:
Adolescent;
Amenorrhea;
Blotting, Southern;
Cell Line;
Female;
Gonadal Dysgenesis, Mixed*;
Gonadoblastoma*;
Gonads;
Humans;
Polymerase Chain Reaction;
Testis;
Y Chromosome
- From:Korean Journal of Obstetrics and Gynecology
2002;45(7):1204-1208
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Gonadoblastoma occurs almost always in association with a Y chromosome cell line, and developes in one third of patients with Mixed gonadal dysgenesis. Removing of gonads of intersex patients with the Y chromosome is very important because of the strong association of the genesis of tumor in dysgenetic gonads with the presence of a Y chromosome. But it is always possible that an XY cell line could be missed, or that a fragment from Y chromosome could have been translocated and not discovered by chromosomal analysis. PCR with Y specific probe or Southern blotting would reveal the presence of a Y or a translocated fragment. We experienced an 18-year-old woman represent with primary amenorrhea who had 45,X/46,X,+mar. Y-specific PCR revealed that the marker chromosome was drived from Y chromosome. After both gonadectomy and clitorial recession, we found the gonadoblastoma in dysgenetic testis. So we report it with brief review of literatures.
