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SCREENING FOR CONGENITAL HYPOTHYROIDISM
Author(s) -
LARSSON AGNE,
LJUNGGREN JANGUSTAF,
EKMAN KARIN,
NILSSON ANDERS,
OLIN PATRICK,
BODEGÅRD GORAN
Publication year - 1981
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1981.tb05533.x
Subject(s) - medicine , congenital hypothyroidism , pediatrics , newborn screening , dried blood , screening test , thyroid , chemistry , chromatography
. Larsson, A., Ljunggren, J. G., Ekman, K., Nilsson, A., Olin, P. and Bodegard, G. (Departments of Paediatrics and Child Psychiatry, Karolinska Institute, St. Göran's Children's Hospital; the Department of Medicine, St. Göran's Hospital; and the PKU Section of the Department of Bacteriology, National Bacteriological Laboratory, Stockholm, Sweden). Screening for congenital hypothyroidism. II. Clinical findings in infants with positive screening tests. Acta Paediatr Scand, 70:147, 1981.–In a pilot screening programme for congenital hypothyroidism, PKU filter paper blood samples from 20000 infants born in Stockholm were analysed for TSH and T 4 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 T 4 concentration; and group IV: 8 infants with increased TSH and decreased T 4 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 0.1 %.