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.