Screening for congenital hypothyroidism: A worldwide view of strategies

George Ford, Stephen H. Lafranchi

Research output: Contribution to journalReview articlepeer-review

152 Scopus citations


Detection by newborn screening (NBS) and treatment of babies with congenital hypothyroidism (CH) has largely eliminated the intellectual disability caused by this disorder. Lowering of the screening TSH cutoff and changes in birth demographics have been associated with an approximate doubling of the incidence of CH, from 1:3500 to 1:1714. The additional cases detected by lowering of the TSH cutoff tend to have milder hypothyroidism, with imaging often demonstrating a eutopic, "gland in-situ", and some cases turn out to have transient CH. Based on our search for current screening programs, approximately 71 percent of babies worldwide are not born in an area with an established NBS program, despite the existence of screening for over five decades in developed countries. Thus, the majority of babies with CH worldwide are not detected and treated early, such that the economic burden of retardation owing to CH remains a significant public health challenge.

Original languageEnglish (US)
Pages (from-to)175-187
Number of pages13
JournalBest Practice and Research: Clinical Endocrinology and Metabolism
Issue number2
StatePublished - Mar 2014


  • "gland-in-situ"
  • TSH cutoff
  • central (secondary) congenital hypothyroidism
  • congenital hypothyroidism
  • cost-effectiveness
  • neurodevelopment
  • newborn screening

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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