ABSTRACT
Hyperparathyroidism (HPT) is an uncommon cause of hypercalcemia in the pediatric population. Primary hyperparathyroidism (PHPT) is an endocrine disorder characterized by an autonomous pathological secretion of parathyroid hormone (PTH) by one or more parathyroid glands leading to hypercalcemia. In most cases PHPT is sporadic, with no familial history of HPT or relation to other endocrinopathies. Multiple endocrine neoplasia (MEN) are a group of autosomal dominant inherited disorders in which patients have a tendency to develop two or more endocrine tumors, each with distinctive features. MEN-1 is the most common familial form of PHPT. Hyperparathyroidism-jaw tumor syndrome is a rare autosomal dominant disorder characterized by the presence of PHPT due to a parathyroid adenoma or in some cases even parathyroid carcinoma. Neonatal severe hyperparathyroidism is an isolated form of PHPT found in neonates at birth or during their first 6 months of life, causing a severe symptomatic hypercalcemia.
