Congenital hypopituitarism is the deficiency in 1 or more hormones produced by the anterior pituitary or released by the posterior pituitary and has an estimated incidence of 1 in 4,000 to 10,000. Due to the critical role the pituitary plays in growth, metabolic, and reproductive processes, early diagnosis is essential to prevent devastating and often preventable outcomes. However, in neonates with congenital hypopituitarism, symptoms are often nonspecific and tend to overlap with other disease processes, making diagnosis extremely challenging in the neonatal period. This review highlights the embryology and organogenesis of the pituitary gland, genetic causes of hypopituitarism, clinical presentations in the neonatal period, and methods to diagnose and treat select deficiencies with a focus on anterior pituitary hormones.
Copyright © 2022 by the American Academy of Pediatrics.