Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism

Background: To analyze predictive factors suggesting transient congenital hypothyroidism (TCH) compared to permanent congenital hypothyroidism (PCH) or transient thyroid function test (TFT) abnormalities among children who had positive screening results at our centers over the past decade.

Methods: A retrospective chart review of 105 subjects who presented elevated TSH levels on a newborn screening test (NST) was done. TCH was defined when a trial-off therapy was successful, and PCH was defined when a trial failed or when the subject was kept on medication beyond 3 years of age. A transient TFT abnormality was defined when follow-up TFTs were normalized without levothyroxine (LT4) therapy.

Results: Congenital hypothyroidism (CH) was diagnosed in 75.2% (TCH 35.2% and PCH 40.0%) of all subjects; the others (24.8%) showed transient TFT abnormalities. Initial NST-TSH levels (optimal cutoff point, 31.0 μIU/mL), the LT4 dose at 2 years of age (4.1 μg/kg/day), and the maximal LT4 dose (50 μg/day) merged as significant predictive factors discriminating between TCH and PCH. The initial serum level of free T4 (1.06 ng/dL) and not TSH (27.2 μIU/mL) was the only discriminating factor between transient TFT abnormalities and TCH.

Conclusion: Earlier re-evaluation might be possible when a patient's initial NST-TSH levels and maximal or 2-year LT4 doses are low, as both are important predictors of successful trial-off therapy in CH patients. When the initial serum level of free T4 is above the average value in neonates with mildly elevated TSH levels, TFTs may be more likely to normalize on their own.