Medicine (Baltimore). 2025 Sep 19;104(38):e44519. doi: 10.1097/MD.0000000000044519.
ABSTRACT
Klinefelter syndrome (KS) and Turner syndrome (TS) are among the most common congenital birth defects, with significant differences in both geographic distribution and temporal trends. There is a lack of updated data in China. This study aims to investigate the current situation and trend of the burden of KS and TS 1990 to 2021 in China and to make predictions for the future. This study is a descriptive and epidemiological analysis of the data from the 2021 global burden of diseases, injuries, and risk factors study. The incidence, prevalence, and disability-adjusted life-years (DALYs) of KS and TS in China are assessed by year and age. The estimated annual percentage changes were used to estimate the average changes in age-standardized rates (ASRs). Joinpoint regression analysis was used to assess the trend of KS and TS disease burden from 1990 to 2021. The Nordpred age-period cohort model was used to predict the DALYs, prevalence ASRs, and KS and TS cases from 2022 to 2042. From 1990 to 2021, KS incidence in China decreased by 54%, while TS incidence also showed a decline. However, DALYs and prevalence rates for both syndromes showed variable trends, with KS DALYs increasing and TS DALYs showing significant changes across different age groups. Projections indicate a decline in the number of DALYs and prevalence for both KS and TS from 2022 to 2042, despite an increase in ASRs. The study highlights significant age-related differences in the burden of Chinese KS and TS, with a decreasing trend in KS incidence and an increasing trend in TS-related complications. These findings underscore the need for improved understanding, early detection, and targeted interventions to mitigate the future burden of these diseases.
PMID:40988279 | DOI:10.1097/MD.0000000000044519
