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.