Neonatal Screening for Congenital Hypothyroidism: Results and Perspectives

Abstract

Systematic screening for congenital hypothyroidism in the neonate constitutes a major progress in the prevention of mental retardation, as the condition occurs in 1/4,000 newborns and necessarily results in brain damage if not properly detected and treated during the first days of life. Screening and diagnostic and therapeutic procedures are discussed, as well as outcome and prognosis of the affected infants. Primary thyroid-stimulating hormone screening is almost universally recommended. Early therapy (within 14 days) with appropriate doses of thyroxine (about 10 µg/kg/day) will prevent any brain damage even in case of evidence of fetal hypothyroidism, as thyroxine of maternal origin will reach the fetus and largely protect him. Neonatal thyroid screening is also a particularly sensitive monitoring tool in the evaluation of the effects and of the correction of iodine deficiency at the population level.