Klinefelter's syndrome and rheumatoid arthritis report of a case and review of the literature

Kobayashi, Shigeto; Yamamoto, Shuichi; Tanaka, Mitsuhiko; Hashimoto, Hiroshi; Hirose, Shunichi

doi:10.1007/bf02242951

Cited by 17 publications

(10 citation statements)

References 10 publications

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“…These differences could also explain the low or almost null association of RA and hypogonadism [13]. In both cases, after androgens are given, the clinical picture and the abnormalities of the immune system are ameliorated [30,31,38].…”

Section: Discussionmentioning

confidence: 99%

High frequency of association of rheumatic/autoimmune diseases and untreated male hypogonadism with severe testicular dysfunction

et al. 2001

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Our goal in the present work was to determine whether male patients with untreated hypogonadism have an increased risk of developing rheumatic/autoimmune disease (RAD), and, if so, whether there is a relation to the type of hypogonadism. We carried out neuroendocrine, genetic, and rheumatologic investigations in 13 such patients and 10 healthy male 46,XY normogonadic control subjects. Age and body mass index were similar in the two groups. Nine of the 13 patients had hypergonadotropic hypogonadism (five of whom had Klinefelter's syndrome [karyotype 47,XXY]) and 4 of the 13 had hypogonadotropic hypogonadism (46,XY). Of these last four, two had Kallmann's syndrome and two had idiopathic cryptorchidism. Eight (61%) of the 13 patients studied had RADs unrelated to the etiology of their hypogonadism. Of these, four had ankylosing spondylitis and histocompatibility B27 antigen, two had systemic lupus erythematosus (in one case associated with antiphospholipids), one had juvenile rheumatoid arthritis, and one had juvenile dermatomyositis. In comparison with the low frequencies of RADs in the general population (about 0.83%, including systemic lupus erythematosus, 0.03%; dermatomyositis, 0.04%; juvenile rheumatoid arthritis, 0.03%; ankylosing spondylitis, 0.01%; rheumatoid arthritis, 0.62%; and other RAD, 0.1%), there were surprisingly high frequencies of such disorders in this small group of patients with untreated hypogonadism ( P < 0.001) and very low serum testosterone levels ( P = 0.0005). The presence of RADs in these patients was independent of the etiology of their hypogonadism and was associated with marked gonadal failure with very low testosterone levels.

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Section: Discussionmentioning

confidence: 99%

High frequency of association of rheumatic/autoimmune diseases and untreated male hypogonadism with severe testicular dysfunction

et al. 2001

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“…The cases reported in the available pre‐1979 literature included a case of RA, type 11 insulin‐resistant diabetes mellitus, and KS in a 41‐year‐old patient; 3 Mac Sween 4 reported on a patient with malignant lymphoma, RA and KS; the description by Tsung and colleagues 5 of a 46‐year‐old patient with KS and the presence of high titers of rheumatoid factors, malignant lymphoma, and Osler–Weber–Rendu syndrome. Kobayashi and colleagues 6 also described a patient with KS associated with RA.…”

Section: Resultsmentioning

confidence: 99%

“…Furthermore, genetic abnormalities in androgen receptor coding genes, such as polyglutamine repeat length, were found to contribute to phenotypic variability in KS suggesting alterations in androgen action and may indeed play a role in the development of autoimmunity in KS as well 11 . On the other hand, Kobayashi and colleagues 6 are inclined to believe that low testosterone levels need not represent a predisposition factor for RA activity. The course of the disease in their patient was benign, similarly as in the case report by Bošmanský and Kopecký 2…”

Section: Resultsmentioning

confidence: 99%

Rheumatic diseases and Klinefelter's syndrome

Rovenský

Imrich

Lazúrová

et al. 2010

Annals of the New York Academy of Sciences

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The article summarizes reports on the concurrence of Klinefelter's syndrome (KS) with inflammatory rheumatic diseases, rheumatoid arthritis (RA), juvenile idiopathic arthritis, psoriatic arthritis, polymyositis/dermatomyositis, systemic lupus erythematosus, systemic sclerosis, mixed connective tissue disease, the antiphospholipid syndrome, and ankylosing spondylitis. These include two case reports of patients with KS concurrently associated with RA or antisynthetase syndrome, respectively, previously reported by the author and his coworkers. Attention is paid to the pathogenesis and the course of the disease in patients with KS. The importance of early diagnosis of the syndrome, when occurring simultaneously with other diseases of connective tissue, is emphasized.

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“…Disease states associated with KS extend beyond cancers. Autoimmune disorders have been noted in some KS males, such as systemic lupus erythematosus (Stern et al, ), rheumatoid arthritis (Kobayashi et al, ), and progressive systemic sclerosis (Kobayashi et al, ). The risk of systemic lupus erythrematosus is 14 times greater than for non‐KS males, a similar risk to that of women, possibly because of gene dosing from the additional X chromosome (Sawalha et al, ).…”

Section: Overview Of General Featuresmentioning

confidence: 99%

Anatomical and clinical aspects of Klinefelter's syndrome

Bird

Hurren

2016

Clinical Anatomy

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Klinefelter's syndrome, the most common sex disorder associated with chromosomal aberrations, is characterized by a plethora of clinical features. Parameters for diagnosis of the syndrome are constantly expanding as new anatomical and hormonal abnormalities are noted, yet Klinefelter's remains underdiagnosed and underreported. This review outlines the key anatomical characteristics associated with the syndrome, which are currently used for clinical diagnosis, or may provide means for improving diagnosis in the future. Clin. Anat. 29:606-619, 2016. © 2016 Wiley Periodicals, Inc.

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Klinefelter's syndrome and rheumatoid arthritis report of a case and review of the literature

Cited by 17 publications

References 10 publications

High frequency of association of rheumatic/autoimmune diseases and untreated male hypogonadism with severe testicular dysfunction

High frequency of association of rheumatic/autoimmune diseases and untreated male hypogonadism with severe testicular dysfunction

Rheumatic diseases and Klinefelter's syndrome

Anatomical and clinical aspects of Klinefelter's syndrome

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