[Congenital hypothyroidism]

Abstract

The clinical picture of congenital hypothyroidism in the newborn period as well as in infancy is presented. Those signs and symptoms are particularly emphasized which in spite of being clearly present in the newborn are frequently not registered and mostly not correctly interpreted. This is meant to aid in earlier clinical diagnosis of congenital hypothyroidism. Furthermore, guidelines for diagnostic work-up, therapy and follow-up are presented. For an optimal mental and neurological prognosis early treatment is of paramount importance.