4. Endocrine Problems of Infancy

Summary

The endocrine problems of the newborn are sometimes obvious, such as disorders of sexual development, but often they present with non-specific symptoms which may have dire consequences if they are not quickly recognized, diagnosed and treated, such as hypoglycemia. This chapter describes how to deal with such situations. It covers the sex of rearing which is based upon phenotypical, biochemical and molecular assessment, and congenital adrenal hyperplasia, the most common cause of disorders of sexual development. Neonatal hypoglycemia is a life-threatening medical emergency but a prompt analysis of a single blood sample taken at the time of hypoglycemia may solve the problem. Jaundice is a clue both to hypothyroidism and to cortisol deficiency; treatment delays have serious sequelae. Hypocalcemia presents with fits and hypercalcemia with non-specific features such as irritability, vomiting and failure to thrive.