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A Rare Case of Mixed Gonadal Dysgenesis with Malignant Mixed Germ Cell Tumor - Abstract

Mamatha Basavaraju, Dhiraj K Balaji



Mixed gonadal dysgenesis (MGD) comprises a heterogeneous group of diverse chromosomal, gonadal, and phenotypic abnormalities. MGD with 46 XO/XY mosaicism usually has a male phenotype(90%). We present a child with a rare case of XO/XY mosaicismreared as female. The child had abdominal distension and an abdominal mass for 2 years but was neglected until she developed features of intestinal obstruction. She had a prominent clitoris since birth butit was not of concern to the family untilit grewsignificantly at puberty. Though initially we attributed the clitoromegaly to be due to virilization from mixed germ cell tumor, later on further evaluation with karyotyping and intraoperative inspection we confirmed the diagnosis of mixed gonadal dysgenesis. The patient was successfully managed with neoadjuvent chemotherapy and excision of residual tumor.

Keywords: mixed gonadal dysgenesis, mixed germ cell tumor, intestinal obstruction


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