Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

There are reports suggesting that people with Klinefelter's syndrome (KS) may be at increased risk of some autoimmune diseases, but the evidence is not substantial. We wanted to add to the evidence by systematically assessing the risk of autoimmune diseases in a national cohort of people with KS. We selected records of all people with KS in a record-linked dataset of all hospital day cases and inpatient admissions in England, 1999-2011; and we followed them up by electronic record linkage to identify the occurrence of autoimmune diseases. We compared their occurrence in the KS cohort with a control cohort, studied in the same way, and expressed the results as rate ratios (RR). Of 30 autoimmune diseases studied in people with KS, there were significantly increased risks of seven-Addison's disease (RR 11.7, 95% confidence interval 2.4-34.4), diabetes mellitus type 1 (6.1, 4.4-8.3), multiple sclerosis (4.3, 1.2-11.0), acquired hypothyroidism (2.7, 1.8-4.0), rheumatoid arthritis (3.3, 2.0-5.2), Sjogren's syndrome (19.3, 4.0-57.0) and systemic lupus erythematosus (18.1, 2.2-65.6). We concluded that people with KS have increased risk of some autoimmune diseases, particularly those that are female-predominant. The increased risk of autoimmune diseases associated with the XXY karyotype may hold clues to the pathogenesis of some aspects of autoimmunity.

Original publication

DOI

10.3109/08916934.2014.968918

Type

Journal article

Journal

Autoimmunity

Publication Date

03/2015

Volume

48

Pages

125 - 128

Addresses

Unit of Health-Care Epidemiology, Nuffield Department of Population Health, University of Oxford , Oxford, OX , UK and.

Keywords

Humans, Arthritis, Rheumatoid, Sjogren's Syndrome, Multiple Sclerosis, Klinefelter Syndrome, Lupus Erythematosus, Systemic, Diabetes Mellitus, Type 1, Addison Disease, Thyroiditis, Autoimmune, Genetic Predisposition to Disease, Risk, Sex Factors, England, Female, Male, Hashimoto Disease, Electronic Health Records, Genetic Linkage, Abnormal Karyotype, Datasets as Topic