J Rheum Dis.  2012 Jun;19(3):152-155. 10.4078/jrd.2012.19.3.152.

A Case of Klinefelter's Syndrome Accompanying with Polymyositis

Affiliations
  • 1Division of Rheumatology, Department of Internal Medicine, Hanyang University College of Medicine, Guri Hospital, Guri, Korea. lhsberon@hanyang.ac.kr

Abstract

Klinefelter's syndrome which is characterized by hypogonadism with karyotype abnormality (47 XXY or 46 XY/47 XXY) in males has been reported to be associated with autoimmune diseases including rheumatoid arthritis and systemic lupus erythematosus. However, Klinefelter's syndrome accompanying with polymyositis has rarely been reported. We report a case of KFS with polymyosits in a 38-year old man for the first time in Korea.

Keyword

Polymyositis; Klinefelter's syndrome; Hypogonadism

MeSH Terms

Arthritis, Rheumatoid
Autoimmune Diseases
Humans
Hypogonadism
Karyotype
Klinefelter Syndrome
Korea
Lupus Erythematosus, Systemic
Male
Polymyositis

Figure

  • Figure 1 The thigh MRI shows T2 high signal intensity and enhancement of vastus intermedius, vastus medialis, vastus lateralis, gracilis, semimembranous, and semitensinosus muscle of the both thighs (A, B). These findings are compatible with myositis.


Reference

1. Rovenský J, Imrich R, Lazúrová I, Payer J. Rheumatic diseases and Klinefelter's syndrome. Ann N Y Acad Sci. 2010. 1193:1–9.
2. Murakami M, Kishino B, Fushimi H, Sakata Y, Matsuyuki Y. The first report of Klinefelter's syndrome associated with polymyositis. Nihon Naika Gakkai Zasshi. 1988. 77:530–535.
3. Nielsen SM, Rascher C, Temlett JA, Fritz VU. Polymyositis associated with Klinefelter's syndrome. S Afr Med J. 1999. 89:420–421.
4. Kobayashi S, Yamamoto S, Tanaka M, Hashimoto H, Hirose S. Klinefelter's syndrome and rheumatoid arthritis. Report of a case and review of the literature. Clin Rheumatol. 1994. 13:500–503.
5. Stern R, Fishman J, Brusman H, Kunkel HG. Systemic lupus erythematosus associated with klinefelters syndrome. Arthritis Rheum. 1977. 20:18–22.
6. Kobayashi S, Shimamoto T, Taniguchi O, Hashimoto H, Hirose S. Klinefelter's syndrome associated with progressive systemic sclerosis: report of a case and review of the literature. Clin Rheumatol. 1991. 10:84–86.
7. Pages M, Laroche M, Lassoued S, Pages P, Mazieres B, Arlet J. The association of B27 positive spondylarthritis with Klinefelter's syndrome. Presse Med. 1990. 19:178.
8. Merchant PC, Shahani SM. Klinefelter's syndrome. An immunological disorder. Andrologia. 1989. 21:476–478.
9. Engel AG, Arahata K. Mononuclear cells in myopathies: quantitation of functionally distinct subsets, recognition of antigen-specific cell-mediated cytotoxicity in some diseases, and implications for the pathogenesis of the different inflammatory myopathies. Hum Pathol. 1986. 17:704–721.
10. Scofield RH, Bruner GR, Namjou B, Kimberly RP, Ramsey-Goldman R, Petri M, et al. Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome. Arthritis Rheum. 2008. 58:2511–2517.
11. Bizzarro A, Valentini G, Di Martino G, DaPonte A, De Bellis A, Iacono G. Influence of testosterone therapy on clinical and immunological features of autoimmune diseases associated with Klinefelter's syndrome. J Clin Endocrinol Metab. 1987. 64:32–36.
12. Jiménez-Balderas FJ, Tápia-Serrano R, Fonseca ME, Arellano J, Beltrán A, Yáñez P, et al. High frequency of association of rheumatic/autoimmune diseases and untreated male hypogonadism with severe testicular dysfunction. Arthritis Res. 2001. 3:362–367.
13. Jun BY, Lee GJ, Kim JH, Lee JM, Chang SA. Primary hypogonadism associated with ankylosing spondylitis. J Korean Endocr Soc. 2008. 23:352–357.
14. Mo SI, Lee HG, Cho AR, Chung HK, Kim KW, Lee HM, et al. A case of Klinefelter's syndrome associated with rheumatic arthritis. J Rheum Dis. 2011. 18:60–63.
15. Dourmishev LA, Popov JM, Rusinova D. Paraneoplastic dermatomyositis associated with testicular cancer: a case report and literature review. Acta Dermatovenerol Alp Panonica Adriat. 2010. 19:39–43.
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