Screening for congenital hypothyroidism in France. Misdiagnosed cases: collaborative study of screening centres in France

Eur J Pediatr. 1990 Jun;149(9):605-7. doi: 10.1007/BF02034742.

Abstract

Misdiagnosed cases of congenital-hypothyroidism (CH) during the first 9 years of the French screening program were analysed. A total of 50 cases were missed (3% of total diagnosed) which represents a severe failure of the system. Failures were caused by technical errors of sample collection or TSH assay (n = 27) or due to normal TSH (n = 22) or T4 (n = 1) concentrations in the newborn blood specimens. We conclude that screening methods should be improved and that physicians should remain alert to clinical signs of hypothyroidism.

MeSH terms

  • Congenital Hypothyroidism*
  • Diagnostic Errors
  • France
  • Humans
  • Hypothyroidism / diagnosis
  • Infant, Newborn
  • Neonatal Screening / standards*
  • Thyrotropin / blood

Substances

  • Thyrotropin