Congenital hypothyroidism: A diagnosis not to forget

Abstract

Summary: Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Since 1994, Chile has a national plan for mass screening all newborns to diagnose the disease. Currently, the CH incidence is approximately 1:3163 newborn (NB). Approximately, 10% of these cannot be identified by screening programs, so the clinical suspicion is fundamental in the diagnosis. The most frequently clinical features observed in neonates or young infants are the presence of a posterior fontanelle greater than 5 mm, umbilical hernia and dry skin. It is important to determine the etiology of CH, but the etiological study should not delay the start of treatment. Early treatment determines a better prognosis of neurological development. A review of the CH screening program, pathophysiology, clinical presentation, and aspects of the study and treatment are presented in this study.