Screening for congenital hypothyroidism. II. Clinical findings in infants with positive screening tests.
In a pilot screening programme for congenital hypothyroidism, PKU filter paper blood samples from 20 000 infants born in Stockholm were analysed for TSH and T4 to identify optimal conditions for routine nationwide screening. Among 160 infants with positive screening tests, 7 infants (group I) had true-positive results, 6 had primary and one secondary hypothyroidism. The 153 infants with false-positive tests were divided into group II:74 infants with an isolated increased TSH level; group III: 71 infants with an isolated decreased T4 concentration; and group IV: 8 infants with increased TSH and decreased T4 levels. In group I the clinical signs and symptoms of hypothyroidism varied when the diagnosis was made at 3 weeks of age. The median hypothyroid index score was 8 (range 0--18). In groups II-IV most infants showed very few signs of hypothyroidism. The median hypothyroid index scores were 1, 1, and 0, respectively. Clinical findings were of little value in the individual case for distinguishing true from false positive screening tests. We suggest that nation-wide screening should be based on TSH analyses of PKU blood samples, with a cut-off level corresponding to 50 mU/l of plasma. Recall frequency will be less than 0.1%.
D003409:Congenital Hypothyroidism; D005500:Follow-Up Studies; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis; D007231:Infant, Newborn; D008403:Mass Screening; D010865:Pilot Projects; D013548:Sweden; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood
D013972:Thyrotropin; D013974:Thyroxine