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Turner syndrome and autoimmune diseases: record-linkage study
  1. Michael J Goldacre,
  2. Olena O Seminog
  1. Unit of Health–Care Epidemiology, Nuffield Department of Population Health, University of Oxford, Oxford, UK
  1. Correspondence to Professor Michael J Goldacre, Unit of Health–Care Epidemiology, Nuffield Department of Population Health, Old Road Campus, University of Oxford, Oxford OX3 7LF, UK; michael.goldacre{at}


Background There is increasing evidence that Turner syndrome is associated with an elevated risk of a range of autoimmune disorders. We aimed to document this in a national study.

Method Use of a record-linked dataset of all hospital admissions in England, 1999–2011, to construct a retrospective cohort of people with Turner syndrome and a control cohort of people without it. Statistical follow-up to identify the occurrence of 29 separate autoimmune disorders in each cohort. Calculation of rate ratios, comparing the Turner and control cohorts.

Results In the Turner syndrome cohort (2459 people), rate ratios were elevated for 16 of the 29 conditions. Examples included coeliac disease (rate ratio 14.0, 95% CI 10.2 to 18.8), Crohn's disease (5.3, 3.5 to 7.8), ulcerative colitis (3.9, 2.3 to 6.1), hypothyroidism (8.8, 7.8 to 9.9) and hyperthyroidism (4.9, 3.2 to 7.1).

Conclusions The increased risk of autoimmune disorders in people with Turner syndrome covers a wide range of conditions.

  • Epidemiology
  • Genetics
  • Immunology

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