Abstract
Klinefelter’s syndrome (KFS) tends to be associated with immunological disorders. We describe a 37-year-old man who presented signs of testicular atrophy and decreased body hair. He showed pancytopenia and elevated levels of liver enzymes. Chromosome analysis revealed 47XXY karyotype; therefore, he was diagnosed with KFS, with systemic lupus erythematosus and autoimmune hepatitis. Treatment with a high dose of methylprednisolone and methyltestosterone improved thrombocytopenia and symptoms, suggesting that methyltestosterone may have a clinical benefit in the treatment of KFS with a low level of testosterone accompanying immunological disorders.
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References
A Schattner A Berrebi (1986) ArticleTitleKlinefelter’s syndrome associated with autoimmune disease J R Soc Med 40 560
SP Attard-Montalto I Schuller MA Lastowska B Gibbons JE Kingston OB Eden (1994) ArticleTitleNon-Hodgkin’s lymphoma and Klinefelter syndrome Pediatr Hematol Oncol 11 197–200 Occurrence Handle10.3109/08880019409141656 Occurrence Handle1:STN:280:DyaK2c3mtlOlsQ%3D%3D Occurrence Handle8204445
H Hasle A Mellemgaard J Nielsen J Hansen (1994) ArticleTitleCancer incidence in men with Klinefelter syndrome Br J Cancer 71 416–20
R Stern J Fishman H Brusman HG Kunkel (1977) ArticleTitleSystemic lupus erythematosus associated with Klinefelter’s syndrome Arthritis Rheum 20 18–22 Occurrence Handle10.1002/art.1780200103 Occurrence Handle1:STN:280:DyaE2s7ht1SmtA%3D%3D Occurrence Handle300022
T Dugernier JP Huaux E Coche C Nagant D Deuxchaisnes (1987) ArticleTitleKlinefelter’s syndrome and lupus erythematosus: report of a case Clin Rheumatol 6 84–7 10.1007/BF02201007 Occurrence Handle10.1007/BF02201007 Occurrence Handle1:STN:280:DyaL2s3hs12htQ%3D%3D Occurrence Handle3581703
Alvarez F, Berg PA, Bianchi FB, Bianchi L, Burroughs AK, Cancado EL. International autoimmune hepatitis group report: review of criteria for diagnosis of autoimmune hepatitis. J Hepatol 1999;31:929-8
EM Tan AS Cohen JF Fries AT Masi DJ McShane NF Rothfield et al. (1982) ArticleTitleThe 1982 revised criteria for the classification of SLE Arthritis Rheum 25 1271–7 Occurrence Handle10.1002/art.1780251101 Occurrence Handle1:STN:280:DyaL3s%2FkvVCmtA%3D%3D Occurrence Handle7138600
JA Munoz A Gil JM Lopez-Dupla JJ Vazquez P Gonzalez-Gancedo (1994) ArticleTitleSex hormones in chronic systemic lupus erythematosus. Correlation with clinical and biological parameters Ann Med Interne 145 459–63 Occurrence Handle1:STN:280:DyaK2M7mvVOnsg%3D%3D
MH Miller MB Urowitz DD Gladman DW Killinger (1983) ArticleTitleSystemic lupus erythematosus in males Medicine 62 327–34 Occurrence Handle10.1097/00005792-198309000-00005 Occurrence Handle1:STN:280:DyaL2c%2FhtlegtQ%3D%3D Occurrence Handle6225928
RW McMurray W May (2003) ArticleTitleSex hormones and systemic lupus erythematosus: review and meta-analysis Arthritis Rheum 48 2100–10 10.1002/art.11105 Occurrence Handle10.1002/art.11105 Occurrence Handle1:CAS:528:DC%2BD3sXntVWgsLk%3D Occurrence Handle12905462
KG Feher G Bencze J Ujfalussy T Feher (1987) ArticleTitleSerum steroid hormone levels in systemic lupus erythematosus (SLE) Acta Med Hung 44 321–7 Occurrence Handle1:STN:280:DyaL1c7ns1ehtg%3D%3D Occurrence Handle2965338
A Bizzarro G Valentini Di Martino A DaPonte A De Bellis G Iacono (1987) ArticleTitleInfluence of testosterone therapy on clinical and immunological features of autoimmune diseases associated with Klinefelter’s syndrome J Clin Endocrinol Metab 64 32–6 10.1210/jcem-64-1-32 Occurrence Handle10.1210/jcem-64-1-32 Occurrence Handle1:STN:280:DyaL2s%2Flsl2rsw%3D%3D Occurrence Handle3097058
MA Petri PJ Mease JT Merrill RJ Lahita MJ Iannini DE Yocum et al. (2004) ArticleTitleEffects of prasterone on disease activity and symptoms in women with active systemic lupus erythematosus Arthritis Rheum 50 2858–68 10.1002/art.20427 Occurrence Handle10.1002/art.20427 Occurrence Handle1:CAS:528:DC%2BD2cXoslGgsLo%3D Occurrence Handle15452837
RG Lahita HL Bradlow E Ginzler S Pang M New (1987) ArticleTitleLow plasma androgens in women with systemic lupus erythematosus Arthritis Rheum 30 241–8 Occurrence Handle10.1002/art.1780300301 Occurrence Handle1:STN:280:DyaL2s7osVOhsQ%3D%3D Occurrence Handle3032210
T Suzuki N Suzuki RA Daynes EG Engleman (1991) ArticleTitleDehydroepiandrosterone enhances IL-2 production and cytotoxic effector function of human T cells Clin Immunol Immunopathol 61 202–11 Occurrence Handle10.1016/S0090-1229(05)80024-8 Occurrence Handle1:CAS:528:DyaK38XltFOrsg%3D%3D Occurrence Handle1833106
JR Roubinian R Papoian N Talal (1977) ArticleTitleAndrogenic hormones modulate autoantibody responses and improve survival in murine lupus J Clin Invest 59 1066–70 10.1172/JCI108729 Occurrence Handle10.1172/JCI108729 Occurrence Handle1:CAS:528:DyaE2sXkvFKms7g%3D Occurrence Handle864003
RH Straub L Konecna S Hrach G Rothe M Kreutz J Scholmerich et al. (1998) ArticleTitleSerum dehydroepiandrosterone (DHEA) and DHEA sulfate are negatively correlated with serum interleukin-6 (IL-6), and DHEA inhibits IL-6 secretion from mononuclear cells in man in vitro: possible link between endocrinosenescence and immunosenescence J Clin Endocrinol Metab 83 2012–7 10.1210/jc.83.6.2012 Occurrence Handle10.1210/jc.83.6.2012 Occurrence Handle1:CAS:528:DyaK1cXjslCgurk%3D Occurrence Handle9626133
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Sasaki, N., Yamauchi, K., Sato, R. et al. Klinefelter’s syndrome associated with systemic lupus erythematosus and autoimmune hepatitis. Mod Rheumatol 16, 305–308 (2006). https://doi.org/10.1007/s10165-006-0511-5
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DOI: https://doi.org/10.1007/s10165-006-0511-5