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A Case of Mixed Gonadal Dysgenesis.

Journal of the Korean Pediatric Society 1989;32(12):1757-1762.
Published online December 31, 1989.
A Case of Mixed Gonadal Dysgenesis.
Byung Ran Yun1, Jae Il Sohn1, Sei Won Yang1, Hyung Ro Moon1, Je Geun Chi2
1Departments of Pediatrics, College of Medicine, Seoul National University
2Department of Pathology, College of Medicine, Seoul National University
혼함 성선 이형성 1례
윤병란1, 손재일1, 양세원1, 문형로1, 지제근2
1서울대학교 의과대학 소아과학교실
2서울대학교 의과대학 병리학교실
Received: 29 August 1988   • Accepted: 29 August 1988
Mixed gonadal dysenesis is a disorder of sexual differentiation which is characterized by streak gonad associated with contralateral tesis, persistent Mullerian duct structures and/or sex chromosomal mosaicism most commonly with 45, X/46, XY. The authors experienced a case of mixed gonadal dysgensis in a 6-year old child who was reared as female and admitted due to clitoral enlargement. The patient had asymmetrical gonads consisted with testis in the right and streak gonad in the left, and persistent Mullerian duct structures-small uterus, fallopian tube and vagina confirmed by exploratory laparotomy and pathologic examination. The karyotyping revealed mosaicism, 45, X/46, XY.
Key Words: Clitoral enlargement, Mixed gonadal dysgenesis, Sex chromosomal mosaicicsm

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