Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey

Area of Science:

• Pediatrics
• Endocrinology
• Public Health

Background:

• Congenital hypothyroidism (CH) is a significant global cause of preventable mental retardation, affecting 1 in 3000 to 4500 live births.
• Lowering screening thresholds for thyroid-stimulating hormone (TSH) can increase the reported incidence of primary CH.
• Evaluating the effectiveness of national screening programs is crucial for optimizing early detection and intervention.

Purpose of the Study:

• To assess the outcomes of a national congenital hypothyroidism screening program in Turkey.
• To evaluate the current status of CH diagnosis and treatment initiation timelines.
• To identify areas for improvement in the screening and management process.

Main Methods:

• Retrospective analysis of 1300 infants suspected of CH within the Ministry of Health's National Neonatal Screening Program.
• Evaluation of diagnostic data, including TSH levels and timing of heel prick and treatment initiation.
• Comparison of current timelines with pre-screening program benchmarks.

Main Results:

• Congenital hypothyroidism (CH) was diagnosed in 223 infants (18.5%), with treatment initiated in 10 (0.8%) during follow-up.
• Mean capillary TSH was 40.78 μIU/mL and venous TSH was 67.26 μIU/mL.
• The mean age for treatment initiation was 19.87 days, with a delay noted in the time from heel prick to venous TSH measurement (11.10 days vs. planned 3-5 days).

Conclusions:

• The implementation of the screening program in Turkey has significantly reduced the time to diagnose and treat CH.
• Despite improvements, the ideal diagnostic and treatment initiation time of ≤14 days has not yet been consistently achieved.
• Further optimization of the screening pathway is necessary to meet established ideal timelines for CH management.