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Mo, Lee, Cho, Chung, Kim, Lee, Kang, Ko, Lee, and Nah: A Case of Klinefelter's Syndrome Associated with Rheumatoid Arthritis
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J Rheum Dis 2011;18(1):60-63.

Published online: 31 March 2011

DOI: https://doi.org/10.4078/jrd.2011.18.1.60

A Case of Klinefelter's Syndrome Associated with Rheumatoid Arthritis

Sang Il Mo, Hyeok Gyu Lee, A Ra Cho, Hye Kyoung Chung, Ki Won Kim, Han Min Lee, Byong Il Kang, Gyu Bong Ko, Se-Whan Lee, Seong-Su Nah

Department of Internal Medicine, Soonchunhyang University College of Medicine, Cheonan, Korea

Received 20 September 201012 October 2010       Accepted 18 October 2010

Copyright © 2011 The Korean College of Rheumatology

Abstract

Klinefelter's syndrome (KFS) is a gonosomal aberration disease that occurs in males, and is characterized by 47, XXY karyotype, hypogonadism and a lack of secondary sexual characteristics. A potential link between this hor-monally deficient syndrome and autoimmune disease, particularly systemic lupus erythematosus (SLE), has been reported. On the other hand, KFS is rarely reported to be accompanied by rheumatoid arthritis (RA), and there are no Korean cases reported. We report the first Korean case of a KFS patient with seropositive RA and discuss the role of the pathogenesis of RA with KFS.

Keywords: Klinefelter's syndrome, Rheumatoid arthritis, X chromosome

References

1. Hamerton JL, Canning N, Ray M, Smith S. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet. 1975; 8:223–43.
2. Murakami M, Kishino B, Fushimi H, Sakata Y, Matsuyu-ki Y. The first report of Klinefelter's syndrome associated with polymyositis. Nippon Naika Gakkai Zasshi. 1988; 77:530–5.
3. Kobayashi S, Shimamoto T, Taniguchi O, Hashimoto H, Hirose S. Klinefelter's syndrome associated with progre-ssive systemic sclerosis: report of a case and review of the literature. Clin Rheumatol. 1991; 10:84–6.
4. Lamotte M, Labrousse C, Perrault MA, Kleinecht D, Rozenbaum H. Severe rheumatoid polyarthritis, insulin- resistant diabetes, Klinefelter's ter's syndrome. Sem Hop. 1965; 41:525–8.
5. Macsween RN. Reticulum-cell sarcoma and rheumatoid arthritis in a patient with XY/XXY/XXXY Klinefelter's syndrome and nolmal intelligence. Lancet. 1965; 1:460–1.
6. Tsung SH, Heckman MG. Klinefelter syndrome, immunological disorders, and malignant neoplasm: report of a case. Arch Pathol. 1974; 98:351–4.
7. Al-Arfaj HF. Klinefelter's syndrome and rheumatoid arthritis: report of a case and review of the literature. Int J Rheum Dis. 2010; 13:86–8.
8. Yang CY, Lin KC, Chou CW, Lin MB, Chen SY, Cheng HM. Klinefelter's syndrome with seizure, pseudohypopar- athyroidism type Ib and multiple endocrine dysfunctions. J Chin Med Assoc. 2005; 68:585–90.
9. Friedman A, Waksman Y. Sex hormones and autoimmunity. Isr J Med Sci. 1997; 33:254–7.
10. Khalkhali-Ellis Z, Handa RJ, Price RH Jr, Adams BD, Callaghan JJ, Hendrix MJ. Androgen receptors in human synoviocytes and androgen regulation of interleukin 1beta (IL-1beta) induced IL-6 production: a link between hypo-androgenicity and rheumatoid arthritis? J Rheumatol. 2002; 29:1843–6.
11. Cutolo M, Balleari E, Giusti M, Intra E, Accardo S. Androgen replacement therapy in male patients with rheumatoid arthritis. Arthritis Rheum. 1991; 34:1–5.
12. Straub RH, Zeuner M, Antoniou E, Schölmerich J, Lang B. Dehydroepiandrosterone sulfate is positively correlated with soluble interleukin 2 receptor and soluble inter-cellular adhesion molecule in systemic lupus erythematosus. J Rheumatol. 1996; 23:856–61.
13. Purohit A, Ghilchik MW, Duncan L, Wang DY, Singh A, Walker MM, et al. Aromatase activity and interleukin-6 production by normal and malignant breast tissues. J Clin Endocrinol Metab. 1995; 80:3052–8.
14. Rovensky J, Kvetnansky R, Radikova Z, Imrich R, Greguska O, Vigas M, et al. Hormone concentrations in synovial fluid of patients with rheumatoid arthritis. Clin Exp Rheumatol. 2005; 23:292–6.
15. Zinn AR, Ramos P, Elder FF, Kowal K, Samango-Sprouse C, Ross JL. Androgen receptor CAGn repeat length influ-ences phenotype of 47,XXY (Klinefelter) syndrome. J Clin Endocrinol Metab. 2005; 90:5041–6.
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