ArticleInternational journal of women's health2025
Global Prevalence of Infertility Attributable to Sex Chromosome Abnormalities: Insights from the Global Burden of Disease Study.
Article in International journal of women's health, 2025. 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
Background: Klinefelter syndrome (KS) and Turner syndrome (TS) are chromosomal disorders characterized by gonadal dysgenesis, leading to male and female infertility, respectively. There is a significant gap in epidemiological data on infertility related to hereditary gonadal dysgenesis due to sex chromosomal abnormalities in individuals aged 15-49. Methods: A systematic analysis was conducted to examine the prevalence and Years Lived with Disability (YLD) due to infertility linked to KS and TS across 21 regions and 204 countries from 1990 to 2021. Estimates for cases, age-standardized prevalence rates (ASPR), age-standardized YLDs, and average annual percentage changes (AAPCs) in prevalence and YLDs were calculated, stratified by age and socio-demographic index (SDI). Results: The global burden of infertility due to gonadal dysgenesis shows significant gender and regional disparities. The prevalence of male infertility linked to KS gradually increased (ASPR rose from 11 to 12/100,000, AAPC=0.09, P<0.05) between 1990 and 2021, with the highest rates in Western and Eastern Europe (ASPR 19-20/100,000) and the fastest growth in East Asia (AAPC=0.44, P<0.05). In contrast, the prevalence of female infertility associated with TS slightly declined globally (ASPR decreased from 6.55 to 6.3/100,000, AAPC=-0.12, P<0.05), particularly in North America and Western Europe. Although absolute YLDs increased due to population growth, age-standardized rates remained stable, indicating no significant worsening of health impacts. Conclusion: From 1990 to 2021, male infertility from KS increased gradually, while female infertility due to TS decreased slightly. There's an urgent need for better prepubertal identification, fertility preservation, and tailored screening, especially in Europe, East Asia, and North America. Data scarcity in low-SDI regions may distort infertility trend.
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