지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2013.1
- 수록면
- 538 - 540 (3page)
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초록· 키워드
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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.
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참고문헌 (6)
참고문헌 신청
Bojesen A / 2007 / Klinefelter syndrome in clinical practice / Nat Clin Pract Urol 4 : 192 ~ 204
Gabbett MT / 2008 / Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region / Clin Genet 73 : 353 ~ 359
Pramyothin P / 2010 / A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization / Endocrine 3
Saad F / 2011 / The role of testosterone in the etiology and treatment of obesity, the metabolic syndrome, and diabetes mellitus type 2 / J Obes 2011
Tartaglia N / 2011 / 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome / Acta Paediatr 100 : 851 ~ 860
Gabbett MT / 2008 / Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region / Clin Genet 73 : 353 ~ 359
Pramyothin P / 2010 / A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization / Endocrine 3
Saad F / 2011 / The role of testosterone in the etiology and treatment of obesity, the metabolic syndrome, and diabetes mellitus type 2 / J Obes 2011
Tartaglia N / 2011 / 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome / Acta Paediatr 100 : 851 ~ 860
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