Newborn screening for endocrinopathies

Congenital hypothyroidism and adrenal hyperplasia are the two most common endocrine disorders in childhood. Untreated they are characterised by increased morbidity and mortality, in particular in infants with adrenal hyperplasia during salt-wasting episodes. Newborn screening for hypothyroidism and adrenal hyperplasia using thyroid stimulating hormone (TSH) or 17-hydroxyprogesterone is crucial for timely diagnosis and therapy with thyroxine or hydrocortisone, respectively. In Germany, Austria and Switzerland newborn screening for these disorders is carried out nationwide on the third day of life. Late-onset hypothyroidism and atypical adrenal hyperplasia may not be readily detected by newborn screening and may present clinically later on during infancy or childhood. In these cases diagnosis should be suspected clinically and confirmed by measuring the appropriate hormones. Infants with confirmed hypothyroidism and adrenal hyperplasia should be treated and followed-up by an experienced pediatrician preferably specialised in pediatric endocrinology. Collection of longitudinal data on outcome in infants diagnosed through newborn screening is warranted.