Epidemiological analysis of turner syndrome in children aged 0-14 years: global, regional, and national perspectives (1990-2021).

BACKGROUND

Turner syndrome (TS), a chromosomal disorder (45, X) affecting approximately 1 in 2,000 female births, results in multisystem morbidity. This study aims to report global trends in the prevalence and disability-adjusted life years (DALYs) of childhood TS from 1990 to 2021.

METHODS

This study analyzed the prevalence and DALYs of TS in children aged 0-14 years using data from the Global Burden of Disease (GBD) database. Prevalence and DALYs were calculated per 100,000 population with 95% uncertainty intervals (UI). A log-transformed linear regression model was applied to estimate the average annual percentage change (EAPC) and evaluate temporal trends.

FINDINGS: Globally, the prevalence of TS in children in 2021 was 240598.45 cases (95% UI, 185491.24,318611.47), with 174,186.30 DALYs (95% UI, 127,104.64-223,265.92). From 1990 to 2021, the prevalence increased by 12.81% (95% UI, 11.37% to 14.05%), and DALYs decreased by 66.13% (95% UI, -79.97% to -44.24%). Among the five Sociodemographic Index (SDI) regions, the highest EAPCs were observed in the High SDI regions for prevalence (0.03; 95% CI, 0.01-0.05) and DALYs (0.03; 95% CI, 0.01-0.05). Regionally, the largest decline in prevalence rate occurred in Andean Latin America (EAPC = -0.44; 95% CI, -0.45 to -0.43), and the greatest increase was recorded in the Caribbean (EAPC = 0.05; 95% CI, 0.00-0.10). At the national level, India had the highest number of TS cases in 2021, with 45,941.86 cases (95% UI, 35,104.78-61,429.72).

INTERPRETATION: Overall, these findings provide a critical foundation for shaping public health strategies and policy decisions aimed at reducing the global burden of pediatric TS through improved diagnostic practices, comprehensive care, and targeted interventions.