Turner syndrome as a state of increased autoimmune susceptibility: evidence from rheumatic diseases

Turner syndrome (TS) is a chromosomal disorder of females due to the partial or complete absence of an X chromosome. Growing evidence suggests a significant association between TS and autoimmune disorders, especially rheumatic diseases like juvenile idiopathic arthritis (JIA) and systemic lupus erythematosus (SLE). Recognition of this association is important for early detection, timely intervention, and avoidance of complications. The aim of this narrative review is to analyze the association between TS and rheumatic diseases in terms of epidemiological, clinical, and pathophysiological aspects as well as therapeutic options. The narrative review was performed by combining information from published case reports, case series, and population-based studies reporting on the association of TS with autoimmune rheumatic diseases. Juvenile idiopathic arthritis was the most frequently described rheumatic disease in TS, mostly as oligoarticular but also as severe polyarticular forms. Systemic lupus erythematosus was less common, but most patients had severe systemic disease with lupus nephritis. Other manifestations were psoriatic arthritis; ankylosing spondylitis in adult and pediatric cases; and systemic sclerosis as a very rare exception, likely reflecting the scarcity of reported cases rather than a defined protective effect in TS. A population-based study revealed that women with TS are at a profoundly increased risk of autoimmune rheumatic diseases as compared to the general female population. In conclusion, these findings suggest increased autoimmune susceptibility in Turner syndrome and underscore the need for heightened clinical awareness. Current evidence remains limited, underscoring the need for heightened clinical awareness rather than routine screening strategies.