What has national screening program changed in cases with congenital hypothyroidism?

Area of Science:

• Pediatrics
• Endocrinology
• Public Health

Background:

• Congenital hypothyroidism (CH) is a leading preventable cause of intellectual disability.
• Effective screening programs are crucial for early detection and intervention in CH.
• A national screening program was initiated in 2007 to address CH.

Purpose of the Study:

• To evaluate the impact of the national screening program on CH diagnosis and outcomes.
• To assess changes in age of diagnosis, clinical presentation, and intellectual disability rates before and after 2007.
• To analyze gender-specific differences in diagnosis and treatment onset.

Main Methods:

• Retrospective evaluation of 400 CH patients.
• Analysis of diagnosis age, clinical complaints, and etiology.
• Comparison of parameters before (pre-2007) and after (post-2007) the screening program initiation.

Main Results:

• Post-screening, 70.6% of patients diagnosed within the first month, a significant increase from 48.4% pre-screening.
• Mental retardation rates decreased from 13.3% to 4% after program implementation.
• Gender disparity in treatment onset age disappeared post-screening.

Conclusions:

• The national screening program significantly reduced diagnosis and treatment ages and mental retardation rates in CH patients, particularly girls.
• While improvements are evident, optimal outcomes are yet to be achieved.
• Continued efforts are expected to further enhance screening effectiveness and patient outcomes.