Meta‐Analysis: Liver Disease Burden and Associated Factors in Turner Syndrome

ABSTRACT Background The prevalence, incidence, and associated factors of liver disease (LD) in Turner syndrome (TS) remain uncertain. Aims A meta‐analysis was performed to quantify LD burden in TS. Methods Four electronic databases were searched through June 2025 for observational studies involving karyotype‐confirmed individuals with TS. LD was defined by raised serum liver enzymes (RLE), International Classification of Diseases codes, imaging, or histology. Pooled prevalence, incidence, and odds ratios (OR) with 95% confidence intervals (CI) were calculated. Results Forty studies from 19 countries with aggregate data on 9728 young TS individuals (median age 25.5 years, IQR 16.8–30.7) were included. Prevalences of RLE, steatotic LD (SLD), and significant/advanced liver fibrosis were 26.9% (95% CI 19.7–35.6), 22.3% (9.9–42.9), and 12.2% (2.6–41.7), respectively. Incidence of RLE was 16.7 per 1000 person‐years (7.6–36.8). Compared to age‐matched healthy controls, TS individuals had higher odds of RLE (OR 3.96 [95% CI 1.45–10.84]), SLD (OR 4.03 [1.86–8.70]), and significant/advanced fibrosis (OR 5.74 [2.99–11.01]). Compared to X monosomy, isochromosome Xq conferred a higher risk of RLE (OR 1.55 [1.15–2.10]), while mosaicism without structural abnormalities was protective (OR 0.54 [0.32–0.89]). Ring X or Y chromosome material carried risks like X monosomy. Hormone replacement therapy was not associated with an increased risk of RLE (OR 1.10 [0.79–1.53]). Conclusions Liver disease is common in individuals with TS, with a 4–6 times higher risk than age‐matched healthy females. X chromosome abnormalities are more strongly associated with an increased liver disease risk than hypogonadism.