Manifestations of congenital hypothyroidism during the 1st week of life

Abstract

Congenital hypothyroidism (CHT) produces few and vague clinical signs during the first few weeks of life, when it is still possible to prevent irreparable brain damage. In the Finnish national screening programme for CHT, treatment is started at a median age of 6 days. According to multiple logistic regression analysis based on 102 cases, the main manifestations of CHT at this age are retardation of skeletal maturation and growth in length, icterus, large tongue, abdominal distension, skin mottling, muscle hypotonia and probably increased head size. The presence of other signs did not increase the probability of CHT. All signs are non-specific and some of the hypothyroid infants did not have any of them. Control of other confusing perinatal problems improved the diagnostic scoring but this did not increase the accuracy of prediction acceptably.