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Investigation

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Authoring team

Routine screening should be done in all infants.

  • in UK, filter paper blood spot TSH measurement is used for screening - the TSH is high and diagnostic in primary hypothyroidism but normal or low in secondary hypothyroidism
    • the test is restricted to specialist centers
    • to avoid false positive results (since increased TSH levels are seen up to 24h following birth) the sample should be taken at least 48 hours after birth (within 2-8 day ) (1)
  • confirmatory examinations of congenital hypothyroidism:
    • should be done immediately after the TSH screening test (around 2 weeks after birth)
    • measure serum TSH and free T4 levels
      • increased serum TSH and a low free T4 or total free T4 indicates the diagnosis of primary hypothyroidism (2)
  • radiology may reveal delay in ossification and fragmentation of the epiphyses
  • radioactive marker uptake may be used to locate ectopic glands

Note:

  • in preterm infants or acutely ill term infants with primary hypothyroidism, increased TSH levels may not be detected during the first screening test
    • such infants are required to undergo a routine second screening test which will identify these infants with "delayed TSH rise"
    • present in approximately 1:18,000 newborns (2)

Reference:

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