Neonatal Hypopituitarism

Neonatal hypopituitarism, a collection of conditions characterized by 1 or more pituitary hormone deficiencies, is associated with various phenotypes, each characterized by specific clinical, hormonal, radiographic, and, sometimes, genetic findings. Signs and symptoms of neonatal hypopituitarism include hypoglycemia, prolonged jaundice, microphallus, midline defects, and feeding difficulties. The initial evaluation of neonates at risk of multiple pituitary hormone deficiencies includes laboratory assessment of all hormone axes and brain magnetic resonance imaging for visualization of the pituitary. Pediatric endocrinologists should be consulted to guide interpretation of laboratory results and management. Prompt initiation of treatment is expected to improve overall clinical outcomes. In this review, we summarize the spectrum of phenotypes associated with neonatal hypopituitarism, the role of genetic testing, and the clinical presentation of hypopituitarism in infancy. We also describe the diagnostic approaches and management strategies for each abnormality of the pituitary axis in neonates.