Management of congenital hypothyroidism

Abstract

Infants with CH have to be treated with L-T4 as soon as possible, hopefully within the second week of life without any delay due to aetiological evaluation. It is recommended to refer the patients to a paediatric endocrinologist. A complete interview about family, pregnancy course, maternal drugs and medications during foetal life, physical examination and clinical evaluation with particular attention to the presence of any extra-thyroidal disease should be performed to evaluate any cause of CH. Confirmatory measurement of TSH and fT4 is always needed before starting L-T4 administration. In case of maternal autoimmune thyroid disorder or a previously affected infant, measurement of anti-TSH blocking receptors and anti-thyroid antibodies in the mother and the infant may identify a transient form of CH.