Global prevalence of autoimmune diseases in turner syndrome: a systematic review and meta-analysis

Despite previous research linking Turner Syndrome (TS) with specific autoimmune conditions, a comprehensive analysis examining the broader relationship between sex chromosome abnormalities and multiple autoimmune diseases (AIDs) is lacking. This study aims to provide a meta-analysis of AID prevalence in TS, highlighting clinical implications and potential genetic links. A systematic search of Medline, Embase, Scopus, and Web of Science was conducted from database inception to July 30, 2024, using search terms including “Turner Syndrome,” “sex chromosome abnormalities,” and “autoimmune diseases.” Duplicate entries were removed, and three authors independently screened the titles and abstracts, resolving discrepancies through consensus. Eligible studies included case-control, cohort, and cross-sectional designs that assessed the prevalence of autoimmune diseases in patients with sex chromosome abnormalities. Studies were excluded if they lacked relevant data or focused on unrelated genetic conditions. Meta-analyses were performed using Review Manager (version 5.4.1). A total of 2,430 records were identified, and 1,215 duplicate records were removed by an automation tool. The remaining 1,215 records were screened for relevance, resulting in 535 records that were assessed based on titles and abstracts. Ultimately, 45 studies met the inclusion criteria for systematic review and meta-analysis, comprising 14,717 patients with TS. The pooled prevalence of AIT in TS patients was 21.61% (95% confidence interval: 12.85–30.37). Compared to the general population, the prevalence rates were elevated for T1DM (1.32%), celiac disease (5.89%), and alopecia areata (0.84%) in TS patients. Conversely, the prevalence of psoriasis (1.14%) did not differ significantly, whereas the prevalence of vitiligo (0.84%) was significantly lower. This meta-analysis demonstrates a significantly higher prevalence of certain autoimmune conditions in TS patients relative to the general population. These findings also suggest potential genetic associations between AIDs and the X chromosome, highlighting avenues for further investigation. Patients with Turner Syndrome (TS) exhibit a significantly higher prevalence of autoimmune diseases (AIDs), including Autoimmune Thyroiditis (AIT), Type 1 Diabetes Mellitus (T1DM), Crohn’s disease, celiac disease, and alopecia areata, compared to the general population.Among thyroid disorders, Hashimoto’s Thyroiditis was particularly prevalent in TS patients, whereas Graves’ Disease showed a prevalence similar to the general population.Given the increased risk of autoimmune diseases in TS, regular monitoring, early diagnosis, and personalized healthcare strategies are essential for improving patient outcomes and mitigating long-term complications. Patients with Turner Syndrome (TS) exhibit a significantly higher prevalence of autoimmune diseases (AIDs), including Autoimmune Thyroiditis (AIT), Type 1 Diabetes Mellitus (T1DM), Crohn’s disease, celiac disease, and alopecia areata, compared to the general population. Among thyroid disorders, Hashimoto’s Thyroiditis was particularly prevalent in TS patients, whereas Graves’ Disease showed a prevalence similar to the general population. Given the increased risk of autoimmune diseases in TS, regular monitoring, early diagnosis, and personalized healthcare strategies are essential for improving patient outcomes and mitigating long-term complications.

尽管既往已有研究将特纳综合征（Turner Syndrome, TS）与特定自身免疫性疾病建立关联，但目前仍缺乏针对性染色体异常与多种自身免疫性疾病（multiple autoimmune diseases, AIDs）之间更广泛关联的全面分析。本研究旨在针对特纳综合征患者的自身免疫性疾病患病率开展荟萃分析（meta-analysis），阐明其临床意义与潜在遗传学关联。研究于2024年7月30日前，从各数据库建库起对Medline、Embase、Scopus及Web of Science进行系统检索，检索词包含"Turner Syndrome"、"sex chromosome abnormalities"及"autoimmune diseases"。剔除重复条目后，由3名研究者独立对标题和摘要进行筛选，通过协商一致解决分歧。纳入研究需为评估性染色体异常患者自身免疫性疾病患病率的病例对照研究、队列研究及横断面研究；排除缺乏相关数据或聚焦于无关遗传疾病的研究。荟萃分析采用Review Manager（版本5.4.1）完成。本研究共检索到2430条记录，通过自动化工具剔除1215条重复记录；剩余1215条记录进行相关性筛查，最终对535条记录的标题和摘要进行评估。最终有45项研究符合系统评价与荟萃分析的纳入标准，共纳入14717例特纳综合征患者。特纳综合征患者的自身免疫性甲状腺炎（Autoimmune Thyroiditis, AIT）合并患病率为21.61%（95%置信区间：12.85~30.37）。与普通人群相比，特纳综合征患者的1型糖尿病（Type 1 Diabetes Mellitus, T1DM，1.32%）、乳糜泻（5.89%）及斑秃（0.84%）患病率均升高；反之，银屑病（1.14%）患病率无显著差异，而白癜风（0.84%）患病率显著低于普通人群。本荟萃分析证实，相较于普通人群，特纳综合征患者的部分自身免疫性疾病患病率显著升高。研究结果同时提示自身免疫性疾病与X染色体之间存在潜在遗传学关联，为后续研究指明方向。特纳综合征患者相较于普通人群，自身免疫性疾病患病率显著更高，涵盖自身免疫性甲状腺炎（Autoimmune Thyroiditis, AIT）、1型糖尿病（Type 1 Diabetes Mellitus, T1DM）、克罗恩病、乳糜泻及斑秃。在甲状腺疾病中，桥本甲状腺炎（Hashimoto’s Thyroiditis）在特纳综合征患者中尤为高发，而格雷夫斯病（Graves’ Disease）患病率与普通人群相当。鉴于特纳综合征患者自身免疫性疾病风险升高，定期监测、早期诊断及个性化医疗策略对改善患者预后、降低长期并发症风险至关重要。