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Celiac Disease More Common in Patients With Turner Syndrome

Celiac.com 01/29/2016 - Women and girls who have Turner syndrome are significantly more likely to have celiac disease than those without the sex chromosome anomaly, according to a new study by Scandinavian researchers.

Photo: CC--FreeparkingPrevious reports have suggested a connection between Turner syndrome, which is the partial or complete loss of an X chromosome in females, and celiac disease, but those reports were based mainly on case reports from specialty centers. Estimates of celiac disease rates in this population have varied widely, from 2% to 9%, the researchers note.

To get a better picture of the association between celiac disease and Turner syndrome, they queried Sweden's comprehensive computerized registries for data from 28 pathology departments to construct a cohort of women and girls with celiac disease, and then matched each with up to five control patients selected from the Swedish Total Population Register.

The research team led by Karl Mårild, MD, PhD, from the Norwegian Institute of Public Health in Oslo, recently conducted a review of pathology records on 7,548 females with biopsy-confirmed celiac disease in Sweden. Their results showed that 20 of the patients (0.26%) also had a diagnosis of Turner syndrome.

By contrast, of 34,492 age- and sex-matched controls in the general Swedish population, only 21 (0.06%) were diagnosed with Turner syndrome. This translated into an odds ratio (OR) of 3.29 for celiac disease, with a 95% confidence interval [CI], 1.94 - 5.56.

These results are consistent with earlier findings of a positive association between celiac disease and Turner syndrome. They are important because they provide "population-based risk estimates from a population consisting of both in- and outpatients with celiac disease," according to the team.

Their data supports the current recommendation of active case-finding for celiac disease in patients with Turner Syndrome.

In addition to establishing an overall odds ratio (OR) for celiac disease in females with Turner Syndrome, the investigators found that the risk ranged from an OR of 2.16 (95% confidence interval [CI], 0.91 - 5.11) from birth to age 5 years to an OR of 5.50 (95% CI, 1.53 - 19.78) for females diagnosed with celiac disease after age 10 years.

Although women with Turner Syndrome are more prone to type 1 diabetes than women in the general population, the association between Turner Syndrome and celiac disease remained essentially unchanged when the researchers excluded cases and control patients with a diagnosis of type 1 diabetes from the analysis (OR, 3.32; 95% CI, 1.96 - 5.62).

One shortfall of the study is that the researchers were not able to establish "…whether patients with celiac disease were symptomatic or asymptomatic. In addition, in Sweden, the threshold for testing individuals with Turner Syndrome for celiac disease is low."

Because of this, the team acknowledges that their estimates may have been "somewhat influenced by surveillance bias."

The full article appears in January 8 online issue of Pediatrics.

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