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

Youngsook Kim, Won Jin Kim, Ji Hye Huh, Sujin Lee, Daham Kim, Jae Won Hong, Eun Jig Lee

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)538-540
Number of pages3
JournalYonsei medical journal
Volume54
Issue number2
DOIs
Publication statusPublished - 2013 Mar 1

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Morbid Obesity
Klinefelter Syndrome
Gynecomastia
Phenotype
Hypogonadism
X Chromosome
Testis
Chromosomes
Seminiferous Tubules
Penis
Follicle Stimulating Hormone
Luteinizing Hormone
Body Composition
Karyotype
Hair
Testosterone
Spermatozoa
Diabetes Mellitus
Body Mass Index
Fibrosis

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Kim, Youngsook ; Kim, Won Jin ; Huh, Ji Hye ; Lee, Sujin ; Kim, Daham ; Hong, Jae Won ; Lee, Eun Jig. / A 47,X,+t(X;X)(p22.3;p22.3)del(X)(p11.23q11.2),Y Klinefelter variant with Morbid Obesity. In: Yonsei medical journal. 2013 ; Vol. 54, No. 2. pp. 538-540.
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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. / Kim, Youngsook; Kim, Won Jin; Huh, Ji Hye; Lee, Sujin; Kim, Daham; Hong, Jae Won; Lee, Eun Jig.

In: Yonsei medical journal, Vol. 54, No. 2, 01.03.2013, p. 538-540.

Research output: Contribution to journalArticle

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