| A Case of Mixed Gonadal Dysgenesis. |
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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 |
| Mixed Gonadal Dysgenesis 1 례 |
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최은영1, 김민식1, 이혜선1, 안영민1, 민경준2 |
1지방공사 강남병원 소아과
2지방공사 강남병원 비뇨기과 |
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Received: 23 December 1988 • Accepted: 30 December 1988 |
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| Abstract |
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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. |
| Key Words:
Mixed Gonadal Dysgenesis (MGD), Marker chromosome |
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