ArticleInternational urology and nephrology2026
Global burden and health inequalities of sex chromosomal DSDs (1990-2021): a GBD 2021 analysis.
Article in International urology and nephrology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeGlobally, epidemiological data on sex chromosomal disorders of sex development (DSDs) remain scarce, prompting this study to examine their global disease burden and health inequalities, with a focus on Klinefelter syndrome (KS) and Turner syndrome (TS).
methodsWe collected data on the incidence and prevalence of KS and TS from the GBD 2021 and analyzed by location, age, and socio-demographic index (SDI), using estimated annual percentage changes, Spearman's correlation analysis, health inequality analysis, and Bayesian age-period-cohort prediction models. The slope index of inequality and concentration index were employed to assess absolute and relative health inequalities across countries with varying SDI levels.
resultsIn 2021, there were 68,357 incident cases of KS with an incidence rate of 102.12, and the prevalent cases reached 1,121,754, with an age-standardized prevalence rate (ASPR) of 29.68. For TS, there were 23,929 incident cases, with an incidence rate of 38.32, and 531,784 prevalent cases, with an ASPR of 14.47. The ASPR of KS showed an upward trend, while that of TS exhibited a downward trend. The prevalence of DSDs declined with age, most notably in the 0-9 age groups, with the slowest decline observed in high SDI regions. The highest incidence rate was in Sub-Saharan Africa, while the most significant growth was concentrated in Europe. Correlation analysis revealed a negative association or "U-shaped" relationship between the incidence rate of sex chromosomal DSDs and SDI. Inequality analysis indicated that low SDI countries bear a disproportionate burden, with SDI-related inequalities worsening over time, particularly in incidence rates. The burden of KS is forecast to grow modestly by 2036, contrasting with TS's expected gradual decline.
conclusionsGlobally, KS has shown increasing impact among sex chromosomal DSDs, contrasting with TS. Persistent disparities across SDI regions highlight urgent needs for enhanced screening and long-term care in low SDI areas to reduce inequalities.
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