Study Charts Constellation of Turner Syndrome-Related Autoimmune Diseases

October 08, 2013

By Gabriel Miller

NEW YORK (Reuters Health) Oct 08 - Turner syndrome is tied to an increased risk for 16 autoimmune disorders, a new study has found.

Turner syndrome is an X chromosome abnormality that affects about 1 in 2500 live-born girls and may lead to reproductive abnormalities as well as congenital heart disease, along with autoimmune disorders.

The study, published online September 24 in Archives of Disease in Childhood, used a record-linked dataset of all hospital admissions in England between 1999 and 2011.

From that the researchers created a retrospective cohort of 2,459 women with Turner syndrome. The risk of 29 autoimmune diseases was assessed using a control cohort of female patients admitted to English hospitals.

The highest relative risks in the Turner syndrome patients were for celiac disease (RR 14.0) and Hashimoto's thyroiditis (12.5). Relative risks were elevated for a number of other autoimmune conditions including Crohn's disease (5.3), ulcerative colitis (3.9), hypothyroidism (8.8), and hyperthyroidism (4.9).

In total, 16 autoimmune disorders were associated with Turner syndrome.

"Some autoimmune conditions, including Hashimoto thyroiditis, diabetes mellitus, inflammatory bowel disease and celiac disease, have previously been reported as associated with Turner syndrome, while others, such as Addison's disease, ankylosing spondylitis, hypothyroidism, pernicious anemia have not," said lead author Dr. Michael Goldacre from the University of Oxford in England, in an email.

Dr. Pietro Invernizzi, head of the Liver Unit and Center for Autoimmune Liver Diseases at the Humanitas Clinical and Research Center in Rozzano, Italy, said associations between Turner syndrome and autoimmune disorders was highly expected and that all Turner syndrome patients need to be screened for associated autoimmune disorders.

However, because Turner syndrome affects only women through the X chromosome, the study should "strongly stimulate the study of the role of sex chromosomes in autoimmunity," Dr. Invernizzi said in an email. He was not affiliated with the study.


Arch Dis Child 2013.


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