Congenital hypothyroidism in children of Tashkent: clinical and diagnostic aspects

 Congenital hypothyroidism (CH) is one of the most common endocrine disorders in childhood and a leading preventable cause of intellectual disability in early life. This study aimed to evaluate the prognostic role of baseline thyroid-stimulating hormone (TSH) levels and thyroid gland (TG) structural characteristics assessed by ultrasound in the diagnosis and severity stratification of CH in children residing in Tashkent, Uzbekistan. A retrospective cohort study was conducted involving 191 children with a verified diagnosis of CH followed at the Tashkent Screening Center. Birth anthropometrics, pre- and post-treatment TSH levels, thyroid ultrasound findings, bone age, and neurodevelopmental outcomes were analyzed using the Mann–Whitney U-test, Wilcoxon signed-rank test, and Spearman's rank correlation coefficient, with p<0.05 considered statistically significant. The median age at diagnosis was 34 days; early diagnosis within the first 30 days of life was achieved in only 42.9% of patients. Median baseline TSH was 101.5 mIU/L, declining significantly to 1.30 mIU/L following levothyroxine therapy (p<0.001). Structural TG pathology was identified in the majority of patients: hypoplasia in 50.8%, aplasia or agenesis in 25.7%. TSH levels did not differ significantly across morphological subgroups (p=0.141). Children with neurodevelopmental disorders had markedly higher median TSH (216.0 vs. 100.0 mIU/L, p=0.001) and were diagnosed significantly later (161 vs. 30 days, p<0.001). A moderate positive correlation was found between TSH level and age at diagnosis (Spearman's r=0.303, p<0.001). The findings confirm that baseline TSH is a reliable predictor of CH severity and neurodevelopmental outcomes, and that age at diagnosis is the strongest independent determinant of cognitive prognosis. These results highlight the need to strengthen neonatal screening programs and support an integrated diagnostic approach combining TSH measurement with thyroid ultrasound assessment.