title: Screening for congenital hypothyroidism in France. Misdiagnosed cases: collaborative study of screening centres in France.
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.
authors.affiliation: Association Française pour le Dépistage et la Prévention des Maladies Métaboliques, Hôtel Dieu, Lyon, France.
authors.forename: J
authors.initials: J
authors.lastname: Leger
mesh_terms: D003409:Congenital Hypothyroidism; D003951:Diagnostic Errors; D005602:France; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000592:standards*; D013972:Thyrotropin / Q000097:blood
chemical_list: D013972:Thyrotropin