Perspective from Samuel Refetoff, MD
Disclosures: The authors report no relevant financial disclosures.
March 30, 2021
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Guideline supports global newborn screening for congenital hypothyroidism

Perspective from Samuel Refetoff, MD
Disclosures: The authors report no relevant financial disclosures.
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An updated evidence-based guideline supports global neonatal screening for congenital hypothyroidism to optimize detection, diagnosis, treatment and follow-up of children with the condition.

Despite the benefits of neonatal screening, 70% of infants worldwide are born in areas that do not have access to neonatal screening, Paul van Trotsenburg, MD, PhD, professor of pediatric endocrinology at the University of Amsterdam, and colleagues wrote in the guideline, published in Thyroid. Many of these infants are born in areas of endemic iodine deficiency, placing them at increased risk for thyroid hormone deficiency, the researchers wrote.

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“This update of the consensus guidelines on congenital hypothyroidism recommends worldwide neonatal screening and appropriate diagnostics — including genetics — to assess the cause of both primary and central hypothyroidism,” van Trotsenburg said in a press release. “The expert panel recommends the immediate start of correctly dosed levothyroxine treatment and frequent follow-up, including laboratory testing and dose adjustments, to keep thyroid levels in their target ranges, timely assessments of the need to continue treatment, attention for neurodevelopmental and neurosensory function and, if necessary, consulting other health professions, and education of the child and family about congenital hypothyroidism.”

The recommendations include the various neonatal screening approaches for congenital hypothyroidism, as well as guidance for genetic screenings, diagnostics, treatment and prognosis of both primary and central congenital hypothyroidism.

The expert panel made several recommendations:

  • Screening for congenital hypothyroidism should be introduced worldwide; the most sensitive test for detecting primary congenital hypothyroidism is measurement of thyrotropin.
  • When congenital hypothyroidism is diagnosed, immediately initiate correctly dosed levothyroxine treatment and frequent follow-up, including laboratory testing, to keep thyroid hormone levels in their target ranges.
  • Conduct timely assessments of the need to continue treatment, assess for neurodevelopment and neurosensory functions, and, if necessary, consult other health professionals, along with providing education for the child and family about congenital hypothyroidism.
  • All individuals with congenital hypothyroidism are entitled to a well-planned transition of care from pediatrics to adult medicine.

“This consensus guidelines update should be used to further optimize detection, diagnosis, treatment and follow-up of children with all forms of congenital hypothyroidism in the light of the most recent evidence,” the researchers wrote. “It should be helpful in convincing health authorities of the benefits of neonatal screening for congenital hypothyroidism. Further epidemiological and experimental studies are needed to understand the increased incidence of this condition.”

The guideline, an update to expert recommendations published in 2014, is endorsed by the American Thyroid Association, the European Society for Paediatric Endocrinology and the European Society of Endocrinology.