All issues > Volume 32(7); 1989

Original Article

J Korean Pediatr Soc. 1989;32(7):1023-1029. Published online July 31, 1989.

A Case of Mixed Gonadal Dysgenesis.

Eun Young Choi¹, Min Sik Kim¹, Hey Sun Lee¹, Young Min Ahn¹, Kyung Joon Min²

¹Department of Pedatrics, Kangnam General Hospital Public Corporation, Seoul, Korea
²Department of Urology, Kangnam General Hospital Public Corporation, Seoul, Korea

Received: December 23, 1988;  Accepted: December 30, 1988.

Abstract

The syndrome of Mixed Gonadal Dysgenesis is characterized by a unilateral testis, usually intra- abdominal a streak gonad on contralateral side, persistent Mullerian structures and ambiguous genitalia. These patients are chromatin negative and exhibit XO/XY mosaicism, probably resulting from a cytogenetic error very early in embryogenesis. The testis and the streak gonad should be removed because of the potential devlopement of a gonadoblastoma and the virilization that occurs at puberty. We report a case of Mixed Gonadal Dysgenesis, of which a curious karyotype (45, XO/46, X, +mar) and phenotypic expression seems to correspond to Mixed Gonadal Dysgenesis.

Keywords :Mixed Gonadal Dysgenesis (MGD), Marker chromosome