Clin Pediatr Hematol Oncol.
2007 Apr;14(1):83-88.
A Case of 47, XXY/46, XX/46, XY Mosaic Klinefelter Syndrome with Mediastinal Germ Cell Tumor
- Affiliations
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- 1Department of Pediatrics, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Gwangju, Korea. hoonkook@chonnam.ac.kr
- 2Department of Thoracic Surgery, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Gwangju, Korea.
- 3Department of Pathology, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Gwangju, Korea.
- 4Department of Laboratory Medicine, Chonnam National University Hwasun Hospital, Chonnam National University Medical School, Gwangju, Korea.
Abstract
- Klinefelter syndrome (47, XXY) is a well documented abnormality of sex differentiation. Characteristic clinical findings are less prominent in mosaic Klinefelter syndrome. Klinefelter syndrome is often associated with mediastinal germ cell tumors. We report herewith a rare case of mosaic Klinefelter syndrome with mediastinal germ cell tumor. A 16-year-old boy presented with incidentally detected mediastinal mass on chest X-ray. A chest CT revealed about 5x5x5 cm sized heterogeneous opacification with calcifications in left anterior mediastinum. A complete surgical resection was performed. Pathologic findings demonstrated a mature cystic teratoma with small foci of germinoma components. Chromosomal analysis and fluoresent in situ hybridization using XY-probe showed 47, XXY/46, XX/46, XY mosaic Klinefelter syndrome. Without further chemoradiotherapy, he remains free of tumor at 1.5 years after the surgery.
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