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Korean Journal of Obstetrics & Gynecology 2002;45(7):1204-1208.
Published online July 1, 2002.
A case of gonadoblastoma in patient with mixed gonadal dysgenesis.
Jooncheol Park, Jongin Kim, Jungho Rhee
Department of Obstetrics and Gynecology, School of Medicine, Keimyuong University, Daegu, Korea.
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.
Key Words: Mixed gonadal dysgenesis, Gonadoblastoma, Y specific PCR

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