Hypothalamo-Pituitary Disorders in Childhood and Adolescence

The hypothalamus, the stalk, and the pituitary gland form a unique neuroendocrine network regulating essential functions for human survival and development. Congenital and acquired disorders affecting this area of the brain can cause H-P dysfunction. Congenital hypopituitarism can be idiopathic or caused by mutations in any of the genes involved in pituitary development. In childhood, the commonest acquired causes of H-P dysfunction are brain tumors, but inflammatory disorders as well as infections may also result in variable hypopituitarism. Clinical manifestations vary according to the age of the patient and the type/duration of damage. Deficiency of one or more pituitary hormones (hypopituitarism) is the classical presentation of pituitary damage (although hormonal excess can also occur). Symptoms and signs of hypopituitarism include growth failure, immature facies, prolonged conjugated hyperbilirubinemia, hypoglycemia, and micropenis in males. Hypothalamic dysfunction can present with a wide range of endocrine and nonendocrine manifestations such as hypothalamic obesity, and temperature/sleep/thirst dysregulation. The diagnostic approach is a stepwise process including dynamic growth hormone stimulation tests and neuroimaging evaluation. The mainstay of management of H-P disorders is replacement of the lacking pituitary hormones in patients with hypopituitarism. Unfortunately, no effective treatment for hypothalamic dysfunction exists and the management strategy consists mainly of supportive care.