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Published on: September 15, 2023
Three-year follow-up of borderline congenital hypothyroidism
A L Daliva1, B Linder, J DiMartino-Nardi
1Division of Pediatric Endocrinology, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, New York 10467-2490, USA.
Insights
Newborns with borderline hypothyroidism often experience persistent thyroid issues. Early levothyroxine treatment is recommended, as most infants require continued therapy beyond three years.
Area of Science:
- Pediatric Endocrinology
- Neonatal Screening
- Thyroid Function
Background:
- Borderline hypothyroidism identified through newborn screening requires careful management.
- Levothyroxine replacement therapy is a common intervention for neonatal hypothyroidism.
Purpose of the Study:
- To evaluate persistent hypothyroidism in infants initially diagnosed with borderline thyroid function.
- To assess the long-term efficacy of levothyroxine therapy initiated in the neonatal period.
Main Methods:
- Retrospective analysis of 14 term infants with borderline neonatal hypothyroidism.
- Thyroid function tests (Thyroxine, TSH, TRH stimulation) were monitored.
- Levothyroxine therapy was discontinued after 3 years in most patients for reassessment.
Main Results:
- 13 out of 14 infants showed persistently abnormal thyroid function tests after 3 years.
- Only one infant had normal thyroid function studies upon discontinuation of levothyroxine.
- Elevated TSH levels and abnormal TRH test responses indicated persistent primary hypothyroidism.
Conclusions:
- Newborns diagnosed with borderline hypothyroidism may have persistent thyroid dysfunction.
- Levothyroxine replacement therapy is recommended for neonatal borderline hypothyroidism, even with initially mild abnormalities.
- Further prospective studies are needed, but current findings support early intervention.
Abstract:
The purpose of this study was to determine whether children with borderline hypothyroidism in the neonatal period had persistent hypothyroidism after 3 years of levothyroxine replacement therapy. Fourteen term infants with slightly abnormal newborn screening results (thyroxine <10th percentile, thyroid stimulating hormone ¿TSH <40 microU/mL) were identified. The subsequent serum confirmatory TSH results of 12 subjects were modestly elevated (5.3 to 18.8 microU/mL, normal 0.6 to 4.6), whereas 2 subjects who had borderline confirmatory TSH (4.6 and 4.7 microU/mL) had abnormal TSH responses to thyrotropin releasing hormone testing. After 3 years of therapy, levothyroxine was discontinued in 13 patients, and repeat thyroid function tests were obtained 1 month later. Levothyroxine was not discontinued in one patient because he had an elevated random TSH (10 microU/mL) while receiving therapy. At 3 years of age, 13 patients had persistently abnormal thyroid function tests (TSH >4.6 microU/mL or a thyroid releasing hormone test result consistent with primary hypothyroidism), and levothyroxine was reinitiated. Only one patient had normal thyroid function studies. Although prospective studies are still lacking, we recommend levothyroxine replacement in newborns with borderline hypothyroidism.

