Central hypothyroidism: beyond the newborn screen

Abstract

The recognition and early treatment of congenital hypothyroidism has been one of the great success stories in newborn screening. The bulk of these children have isolated deficiency of thyroid hormone, and early treatment with thyroxine avoids the devastating neurodevelopmental consequences that used to be the norm. In this issue of The Journal, Nebesio et al from Indianapolis remind us that some newborns with congenital hypothyroidism have central thyroid dysfunction as one component of panhypopituitarism. As these authors point out from their review of the experience in the state of Indiana, a newborn screen strategy that combines measurement of T4 with that of TSH may actually miss many of these children. In their review, over 80% of children with central hypothyroidism actually had “normal” newborn screens using the T4/TSH strategy. These children experienced a delay in diagnosis of their panhypopituitarism, presumably because the normal newborn screen was reassuring. This occurred even though many of the children had such classic findings in the newborn period as prolonged jaundice, hypoglycemia, and genital abnormalities. States vary in the specific screening process used to detect congenital hypothyroidism. This paper reminds us of why we should know our own state's process, and not be led into a false sense of security about a diagnosis that we may suspect for other reasons. Article page 990 ▸ Newborn Screening Results in Children with Central HypothyroidismThe Journal of PediatricsVol. 156Issue 6PreviewTo investigate newborn screening results in children with congenital hypopituitarism, including central hypothyroidism, and to determine whether there were differences between children who had abnormal results and children with normal newborn screening results. Full-Text PDF