Yonsei Med J.  2013 Mar;54(2):538-540. 10.3349/ymj.2013.54.2.538.

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

• Kim Y
• Kim WJ
• Huh JH
• Lee S
• Kim D
• Hong JW
• Lee EJ

• KMID: 1503923
• DOI: http://doi.org/10.3349/ymj.2013.54.2.538

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.

Keyword

Klinefelter syndrome; morbid obesity; karyotype

MeSH Terms

Adult
Diabetes Complications/genetics
Humans
Karyotyping
Klinefelter Syndrome/*complications/genetics
Male
Obesity, Morbid/*complications/genetics
Phenotype

Figure

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  Fig. 1 Karyotype of this patient.

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  Fig. 2 Structure of X chromosome that shows translocation and deletion.

Reference

1. Bojesen A, Gravholt CH. Klinefelter syndrome in clinical practice. Nat Clin Pract Urol. 2007. 4:192–204.

2. Saad F, Gooren LJ. The role of testosterone in the etiology and treatment of obesity, the metabolic syndrome, and diabetes mellitus type 2. J Obes. 2011. 2011:pii: 471584.

3. Gabbett MT, Peters GB, Carmichael JM, Darmanian AP, Collins FA. Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region. Clin Genet. 2008. 73:353–359.

4. Pramyothin P, Pithukpakorn M, Arakaki RF. A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization. Endocrine. 2010. 37:379–382.

5. Thomas NS, Hassold TJ. Aberrant recombination and the origin of Klinefelter syndrome. Hum Reprod Update. 2003. 9:309–317.

6. Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr. 2011. 100:851–860.