Congenital hypothyroidism: diagnosis and management.

Every newborn infant should be screened for congenital hypothyroidism before discharge from the nursery. Neonatal screening for hypothyroidism was introduced to North America in 1972 and has been demonstrated to be cost effective in the prevention of neurological damage in children. Interpretation of diagnostic test results from such programs is based on understanding the physiology of the thyroid gland and recognition that neonatal hypothyroidism primarily stems from an embryological disorder of thyroid development rather than central causes involving the hypothalamic-pituitary axis. Early diagnosis of hypothyroidism is dependent on proper timing and collection of blood samples and an efficient screening program reporting accurate results. A thorough maternal and family history in conjunction with clinical signs and symptoms of hypothyroidism, biochemical tests, and radiological findings should be used to rapidly establish the diagnosis. Early detection and treatment with thyroxine normalizes skeletal maturation, physical growth, cognitive functioning, and motor development of affected newborns. Nurses play an important role in identification, management, and supportive care of infants with hypothyroidism so that maximal potential is achieved.