Background: Childhood hypopituitarism may be present at birth or may be acquired. Early diagnosis and treatment promote the best possible outcomes.
Methods: The anatomy, etiologies, clinical presentation, diagnostic testing strategies, and current treatments relevant to childhood hypopituitarism are reviewed.
Results: Children with congenital hypopituitarism may present with life-threatening hypoglycemia, abnormal serum sodium concentrations, shock, microphallus in males, and, only later, growth failure. Causes of congenital hypopituitarism include septo-optic dysplasia, other midline syndromes, and mutations of transcription factors involved in pituitary gland development. Children with acquired hypopituitarism typically present with growth failure and may have other complaints depending on the etiology and the extent of missing pituitary hormones. Acquired hypopituitarism may result from tumors (most commonly craniopharyngioma), radiation, infection, hydrocephalus, vascular anomalies, and trauma.
Conclusions: An MRI of the head is critical in determining the etiology. Testing for pituitary hormone deficiencies is undertaken along with appropriate hormonal replacement and, in some cases, direct treatment of the cause of the hypopituitarism. All children with hypopituitarism require coordination of medical care by a pediatric endocrinologist and, when older, transition to the care of an internist endocrinologist. Referrals to a reproductive endocrinologist may be required as fertility issues arise.