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Revisiting early hypothyroidism screening in infants with Down syndrome

I B Purdy1, N Singh1, W L Brown1

  • 1Division of Neonatology, Department of Pediatrics, David Geffen School of Medicine at UCLA, Mattel Children's Hospital, University of California, Los Angeles, Los Angeles, CA, USA.

Journal of Perinatology : Official Journal of the California Perinatal Association
|June 20, 2014
PubMed

Insights

Infants with Down syndrome have a higher incidence of hypothyroidism than previously thought, with over 32% identified before 4 months of age. Early detection of thyroid dysfunction is crucial for this population.

Area of Science:

  • Pediatrics
  • Endocrinology
  • Genetics

Background:

  • Down syndrome is associated with an increased risk of hypothyroidism.
  • Standard screening for hypothyroidism in infants with Down syndrome occurs at 6 months.
  • Early identification of thyroid dysfunction is critical for infant development.

Purpose of the Study:

  • To determine the incidence of hypothyroidism in infants with Down syndrome before the standard 6-month retesting.
  • To compare early hypothyroidism rates with established childhood estimates.

Main Methods:

  • Retrospective observational cohort study of 122 infants with Down syndrome.
  • Analysis of thyroid hormone laboratory tests (thyroxine, thyroid-stimulating hormone) prior to 4 months of age.
  • Cross-linking demographic and diagnostic data with thyroid function tests.

Main Results:

  • Any hypothyroidism was identified in 32.5% of infants.
  • 17.5% had primary hypothyroidism requiring T4 therapy.
  • 15% had compensated hypothyroidism, and 67.5% were euthyroid.

Conclusions:

  • The incidence of any hypothyroidism in infants with Down syndrome is higher than previously reported.
  • Early screening for hypothyroidism is warranted in infants with Down syndrome, even with normal newborn screens.
  • Findings highlight the need for earlier thyroid function monitoring in this population.
Abstract

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