All issues > Volume 32(12); 1989

Original Article

J Korean Pediatr Soc. 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

Received: August 29, 1988;  Accepted: August 29, 1988.

Abstract

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.

Keywords :Clitoral enlargement, Mixed gonadal dysgenesis, Sex chromosomal mosaicicsm