Mårild Karl, Størdal Ketil, Hagman Anna, Ludvigsson Jonas F
Division of Epidemiology, Norwegian Institute of Public Health, Oslo, Norway; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden;
Division of Epidemiology, Norwegian Institute of Public Health, Oslo, Norway; Department of Pediatrics, Østfold Hospital Trust, Fredrikstad, Norway;
Pediatrics. 2016 Feb;137(2):e20152232. doi: 10.1542/peds.2015-2232. Epub 2016 Jan 8.
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.
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.
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.
Females with TS are more likely to develop CD. This study supports active case-finding for CD in TS.
特纳综合征（TS）是女性中最常见的性染色体异常疾病。既往研究表明，TS患者中乳糜泻（CD）的患病率较高，但数据大多局限于三级中心的病例系列。我们旨在研究与普通人群相比，TS患者患CD的风险。
这项瑞典全国性病例对照研究纳入了1973年至2006年出生的CD患者和对照者。该研究包括两组：（1）根据瑞典所有28个病理科的组织病理学报告数据，截至2008年1月诊断为活检证实的CD（绒毛萎缩；马什3期）的7548名女性；（2）34492名基于人群的对照者，按性别、年龄、出生年份和居住县进行匹配。通过前瞻性记录的来自3个全国性健康登记处的数据，确定截至2009年底诊断的TS。使用条件逻辑回归计算CD的比值比（OR）。
在7548名CD女性中，20名被诊断为TS（0.26%），而在34492名对照者中有21名（0.06%），这相当于TS患者患CD的OR为3.29（95%置信区间[CI]1.94 - 5.56）。TS女性患CD的风险在生命的前5年为两倍（OR 2.16；95% CI 0.91 - 5.11），在CD诊断时年龄>10岁的女性中增加超过五倍（OR 5.50；95% CI 1.53 - 19.78）。TS与CD之间的关联在很大程度上不受并发1型糖尿病的影响。
TS女性更易患CD。本研究支持对TS患者进行积极的CD病例筛查。
