49,XXXXY syndrome with diabetes mellitus.
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.
Kim
Hee Jin
HJ
Department of Internal Medicine, College of Medicine, Dankook University, Cheonan, Korea. hjinkim@dankook.ac.kr
Kim
Dongmin
D
Shin
Jae Min
JM
Chung
Hyun-Kyung
HK
Lee
Gilho
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D003920:Diabetes Mellitus / Q000235:genetics*; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications*; D008297:Male; D012729:Sex Chromosome Aberrations