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A 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2),Y Klinefelter Variant with Morbid Obesity

Authors
 Youngsook Kim  ;  Won Jin Kim  ;  Ji Hye Huh  ;  Sujin Lee  ;  Daham Kim  ;  Jae Won Hong  ;  Eun Jig Lee 
Citation
 Yonsei Medical Journal, Vol.54(2) : 538-540, 2013 
Journal Title
 Yonsei Medical Journal 
ISSN
 0513-5796 
Issue Date
2013
Abstract
Klinefelter syndrome is the most common type of genetic cause of hypogonadism. This syndrome is characterized by the presence of 1 or more extra X chromosomes. Phenotype manifestations of this syndrome are small testes, fibrosis of the seminiferous tubules, inability to produce sperm, gynecomastia, tall stature, decrease of serum testosterone and increases of luteinizing hormone and follicle stimulating hormone. Most patients with Klinefelter syndrome are tall, with slender body compositions, and reports of obesity are rare. We report the case of a 35-yr-old man with hypogonadism and morbid obesity and diabetes mellitus. He had gynecomastia, small testes and penis, very sparse body hair and his body mass index was 44.85. He did not report experiencing broken voice and was able to have erections. We conducted a chromosome study. His genotype was 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2). In this case, the patient was diagnosed as Klinefelter syndrome. He showed rare phenotypes like morbid obesity and average height and the phenotype may be caused by the karyotype and the excess number of X chromosome. Further studies of the relationship between chromosomes and phenotype are warranted.
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/86272
DOI
10.3349/ymj.2013.54.2.538
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Biochemistry and Molecular Biology (생화학-분자생물학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실)
Yonsei Authors
김다함(Kim, Da Ham) ; 김영숙(Kim, Young Sook) ; 김원진(Kim, Won Jin) ; 이은직(Lee, Eun Jig) ; 허지혜(Huh, Ji Hye) ; 홍재원(Hong, Jae Won)
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