What Has National Screening Program Changed in Cases with Congenital Hypothyroidism?

Objective: Since congenital hypothyroidism (CH) is the most important cause of preventable mental retardation, its screening is important. In this present study, it was aimed to evaluate congenital hypothyroidism cases before and after the initiation of screening program in year 2007 in our country.
Methods: A total of 400 patients diagnosed with CH at our outpatient clinic were retrospectively evaluated. Age of diagnosis, complaint, clinical signs, and etiological distribution were detected and changes in those parameters were evaluated before and after year 2007, which was the initiation date of our national screening program.
Findings: After year 2007, 70.6% of patients were diagnosed in the first month; 21.2% in 1-3 months; 6.5% in 3-6 months, and no patient was diagnosed after 9 months. Before initiation of the screening program, 48.4% of cases were diagnosed in the first month, the percentage was increased to 62.8% after the program; the increase was significant. While mental retardation was detected in 13.3% of patients before the screening, it was decreased to 4% after initiation of the program. An interesting finding was that age of treatment onset in girls was significantly higher than in boys before the screening; there was no difference between them after initiation of the screening.
Conclusion: In this present study, it was observed that ages of diagnosis and treatment as well as mental retardation rates were significantly decreased in girls after the screening program, but ideal results have not been reached yet, and is expected to be reached in the future.

Keywords
Congenital Hypothyroidism; Neonatal Screening; Infant; Thyroid Hormones