49,XXXXY syndrome with diabetes mellitus |
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Authors: | Kim Hee Jin Kim Dongmin Shin Jae Min Chung Hyun-Kyung Lee Gilho |
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Institution: | Department of Internal Medicine, College of Medicine, Dankook University, Cheonan, Korea. hjinkim@dankook.ac.kr |
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Abstract: | 49,XXXXY syndrome is a rare sex chromosome aneuploidy and characterized by mental retardation, skeletal defects, craniofacial anomalies and hypogonadism. The increased frequency of diabetes mellitus in patients with Klinefelter syndrome and other types of X-chromosome polysomy has been reported, but no cases of diabetes mellitus in adult with 49,XXXXY syndrome have been reported so far. We report an 18-year-old patient with 49,XXXXY syndrome accompanying diabetes mellitus. |
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