Early detection of congenital hypothyroidism.

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Abstract
Thyrotropin (TSH) and thyroxine (T4) assays, have opened up the possibility of screening for the disorder before the classical clinical picture develops with adverse effects on brain development. Although the classical features take weeks or months to appear, symptoms are commonly present soon after birth. The significance of persistent jaundice is becoming more widely recognized but only one-third of cases show this feature. Less impressive symptoms such as inactivity, difficulty in feeding, constipation and slow weight gain are more common. All those responsible for the care of young infants, should be aware of the possible significance of such symptoms, as a higher index of suspicion could almost certainly lead to much earlier diagnosis. In suspected cases, estimation of TSH probably provides the most useful information. This test can usually be carried out on a capillary blood sample and a normal value of 5 .mu.U[microunits]/ml or less virtually excludes the diagnosis. Estimation of plasma T4 can also be used to confirm or exclude hypothyroidism, but care must be taken to interpret results in the light of the high T4 levels normally found in early infancy.