Compliance of diagnosis and early management of congenital hypothyroidism

Objective: This study aimed to estimate the prevalence and the compliance of early diagnosis and early management of congenital hypothyroidism (CH). Materials and Methods: This retrospective cohort study gathered data from all infants born over 10 years from January 2007 to December 2016. All children diagnosed with CH as per standard definition of cord and follow-up thyroid-stimulating hormone (TSH) levels were analyzed to calculate the prevalence and the compliance rates to early treatment goal and time normalization of TSH. These children were evaluated for neurodevelopment outcomes. Results: 31,311 newborns screened for CH with a prevalence over 10 years of 1:3085 per live births. Among the 11 cases, five were found to have thyroid dysgenesis (1:6200), 5 thyroid dyshormonogenesis (1:6200), and only one case of generalized resistance to thyroid hormone (1:31000). The compliance with an early diagnosis within the first 2 weeks was 100%, and compliance with the initial treatment goal was 40%. Normalization was achieved in all cases within 16 weeks; however, all had normal hearing, vision, and development at their current age. Conclusion: The prevalence of CH in this single tertiary care center is similar to national and international data. Dyshormonogenesis has a higher prevalence than global data. Moreover, compliance with early diagnosis is excellent due to the strict adherent cord TSH protocol. The compliance with the initial treatment goal in our center is comparable with international data. However, large population-based studies are needed to establish a benchmark on such compliance rates. The long-term hearing, vision, and development milestone assessments of diagnosed cases were age appropriate.