1.Variations in the Epidemiology of Congenital Hypothyroidism in the Asian Population: a Review
Davindu Anushka LIYANAPATHIRANAGE ; Imalke KANKANANARACHCHI ; Eric De ZOYSA ; Manjula HETTIARACHCHI
International Journal of Thyroidology 2026;19(1):52-59
Congenital hypothyroidism (CH) is an endocrine disorder but with early diagnosis and management can prevent the permanent neurodevelopment impairment. Studying the epidemiology of CH in Asian populations is essential for several reasons; To identify regional risk factors that contribute to the variation in incidence and etiology, improve and tailor newborn screening (NBS) strategies based on local demographics, environmental exposures, and healthcare resources, to guide public health supplementation and maternal thyroid health monitoring and to reduce health disparities and optimize long-term neurodevelopmental outcomes for affected children. The literature search was conducted using PubMed, Google Scholar, and the Open Access Journals for studies published between 2000 and 2025. Population-based NBS studies, national registry data, and large multicenter reports from Asian countries were included. Case reports, small case series, and studies lacking denominators were excluded. Data were extracted on incidence, screening strategies, risk factors, and etiological patterns, and narratively synthesized due to methodological heterogeneity. Higher incidence rates of CH were observed in Iran, India, Sri Lanka, and parts of the Middle East, whereas lower rates were reported in Japan, South Korea, and Central Asia. Key contributing factors included iodine imbalance, consanguinity, maternal thyroid disease, genetic susceptibility, and differences in screening protocols. Countries with universal NBS programs demonstrated earlier diagnosis and improved clinical outcomes. Expansion of universal NBS, optimization of diagnostic thresholds, and strengthening of iodine nutrition and maternal thyroid health programs are essential to reduce disease burden and improve long-term neurodevelopmental outcomes.

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