Turner syndrome and autoimmunity: an underestimated association?

By Ana Espino | Published on December 8, 2025 | 3 min read


Turner syndrome (TS) is a rare chromosomal disorder affecting only girls, characterized by the total or partial loss of one X chromosome. Beyond the classic somatic manifestations—cardiac, endocrine, or bone-related—TS is associated with an increased risk of autoimmune diseases, which represent a significant source of morbidity throughout life. However, existing data on the prevalence of autoimmune diseases in this population remain fragmented and heterogeneous. Available studies often involve small sample sizes, use variable methodologies, and originate from limited geographic regions, making it difficult to establish a reliable estimate of the true risk.  

A major challenge lies in obtaining a clear, consistent, and reliable picture of the frequency of autoimmune diseases in patients with Turner syndrome. Such an estimate is essential to guide early screening, adapt clinical monitoring, and strengthen targeted prevention strategies. It is in this context that the present study was conducted, with the aim of estimating the global and disease-specific prevalence of autoimmune disorders in patients with Turner syndrome through a systematic review and meta-analysis of available data.  

How significant is the autoimmune risk in Turner syndrome?  

Twenty-seven studies were included, totaling 7,595 women with Turner syndrome. Data were analyzed by autoimmune condition, by geographic region, and by karyotype when available. The estimated overall prevalence of autoimmune diseases in women with TS is 38%.  

The autoimmune diseases most frequently observed in patients with Turner syndrome, in decreasing order of prevalence, are: autoimmune thyroiditis (27%), celiac disease (4.3%), type 1 diabetes (3.7%), vitiligo (2.3%), and juvenile idiopathic arthritis (1.1%).  

Regional disparities were also noted, with higher prevalence rates in Europe and North America. Conversely, data from Asia, Africa, and Latin America remain very limited, restricting the global scope of the conclusions.  

Analysis by karyotype further suggests a higher risk of autoimmune diseases in patients with a 45,X karyotype compared with those with mosaic forms. However, the lack of detailed data prevents a definitive conclusion.  

Better screening, better anticipation  

Turner syndrome is a rare genetic condition affecting only girls, resulting from the partial or total loss of one X chromosome. Beyond well-known complications such as growth disorders or cardiac anomalies, this syndrome is also associated with an increased risk of autoimmune diseases. Often underestimated, these diseases may appear in childhood and have long-lasting health impacts.  

In this context, the aim of the study was to estimate the overall and specific prevalence of major autoimmune diseases associated with Turner syndrome, in order to better quantify the risk and support recommendations for early and systematic screening. The results confirm that autoimmune diseases are particularly common in patients with Turner syndrome, with a marked predominance of autoimmune thyroiditis.  

The study does, however, present certain limitations, highlighting the need for broader, more standardized research. Future perspectives include a better understanding of the link between genetic profile and autoimmune risk, as well as the development of systematic screening protocols to be integrated into clinical guidelines for more comprehensive management of Turner syndrome.