49,XXXXY syndrome with diabetes mellitus

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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. Copyright © 2006 S. Karger AG.

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Hee, J. K., Kim, D., Jae, M. S., Chung, H. K., & Lee, G. (2006). 49,XXXXY syndrome with diabetes mellitus. Hormone Research, 65(1), 14–17. https://doi.org/10.1159/000090327

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