title: [Congenital hypothyroidism].
abstract: Congenital hypothyroidism (CH) occurs in 1/3 500 newborn infants. Interest in newborn screening for CH has been widely demonstrated in most countries. It was introduced in France in the last 70's; by the measurement of serum TSH level from an eluate of whole blood collected on filter paper on 3 days of life. It allows earlier diagnosis and treatment preventing most of the serious sequelae of the disease such as postnatal neurological damage. Their neuropsychological evaluation has shown normal mental development in most cases. Although CH with eutopic gland (15% of the cases) has recently been recognized as associated with different molecular defect, the cause of thyroid agenesis (85% of the cases with athyreosis or ectopic gland) remains unknown. These latter forms are usually sporadic but familial cases are described.
authors.affiliation: Service d'endocrinologie et diabétologie pédiatriques, Hôpital Robert-Debré, Paris.
authors.forename: J
authors.initials: J
authors.lastname: Léger
mesh_terms: D015415:Biomarkers / Q000032:analysis; D003409:Congenital Hypothyroidism; D003937:Diagnosis, Differential; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis*; D007231:Infant, Newborn; D015997:Neonatal Screening; D013972:Thyrotropin / Q000097:blood
chemical_list: D015415:Biomarkers; D013972:Thyrotropin