Objective: Turner syndrome (TS) is the most common sex chromosome abnormality in females. Previous research has indicated a high prevalence of celiac disease (CD) in TS, but data have mostly been limited to case series at tertiary centers. We aimed to examine the risk for CD in individuals with TS compared with the general population.
Methods: This Swedish nationwide case-control study included individuals with CD and controls born in 1973-2006. The study consisted of 2 groups: (1) 7548 females with biopsy-verified CD (villous atrophy; Marsh stage 3) diagnosed until January 2008 according to histopathology report data from all 28 Swedish pathology departments and (2) 34 492 population-based controls matched by gender, age, calendar year of birth, and county of residence. TS, diagnosed by the end of 2009, was identified using prospectively recorded data from 3 nationwide health registries. Odds ratios (ORs) for CD were calculated using conditional logistic regression.
Results: Of the 7548 females with CD, 20 had a diagnosis of TS (0.26%) compared with 21 of 34 492 controls (0.06%), corresponding to an OR of 3.29 (95% confidence interval [CI] 1.94-5.56) for CD in individuals with TS. The risk of CD in females with TS ranged from twofold (OR 2.16; 95% CI 0.91-5.11) in the first 5 years of life to a more than fivefold increase in females aged >10 years at CD diagnosis (OR 5.50; 95% CI 1.53-19.78). The association between TS and CD was largely unaffected by concurrent type 1 diabetes.
Conclusions: Females with TS are more likely to develop CD. This study supports active case-finding for CD in TS.
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