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Mild neonatal hyperthyrotrophinaemia: 10-year experience suggests the condition is increasingly common but often

Asaf Oren1, Michael K Wang, Lori Brnjac

  • 1Division of Pediatric Endocrinology, The Hospital for Sick Children, Toronto, ON, Canada; Departments of Pediatrics and Physiology, University of Toronto, Toronto, ON, Canada.

Clinical Endocrinology
|April 25, 2013
PubMed

Insights

Mild neonatal hyperthyrotrophinaemia (MNH) is increasingly diagnosed in infants. While often transient, especially in males, predictors for successful L-thyroxine withdrawal were not identified.

Area of Science:

  • Neonatal endocrinology
  • Pediatric thyroid disorders

Background:

  • Mild neonatal hyperthyrotrophinaemia (MNH) is a condition identified through newborn screening.
  • It is characterized by elevated thyroid-stimulating hormone (TSH) with normal free thyroxine (FT4) levels.

Purpose of the Study:

  • To investigate the prevalence, clinical features, and treatment patterns of MNH in a large infant cohort.
  • To assess the outcomes of L-thyroxine treatment and trial-off therapy in infants with MNH.

Main Methods:

  • Retrospective analysis of infants diagnosed with MNH between 2000 and 2011.
  • MNH defined by abnormal newborn screen, TSH 5-30 mU/l, and normal FT4 on confirmatory tests.
  • Evaluation of treatment history, including L-thyroxine use and trial-off medication attempts.

Main Results:

  • MNH represented 22.3% of patients in the clinic, with increasing incidence over time.
  • 78% of infants received L-thyroxine; overtreatment was detected in 45% of tests during treatment.
  • Trial-off therapy was attempted in 45% of treated infants reaching 3 years, with a 50% success rate; no predictors of success were identified.

Conclusions:

  • MNH is a growing diagnosis, more prevalent in males and often transient.
  • Predictors for successful discontinuation of L-thyroxine therapy remain elusive.
  • Further research is required to optimize L-thyroxine dosing and evaluate neurocognitive outcomes.
Abstract

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