Hyperparathyroidism, due to increased secretion of parathyroid hormones, may be primary, secondary or tertiary. Most pediatric patients with sporadic primary hyperparathyroidism will be symptomatic, presenting with either end-organ damage or nonspecific symptoms. In younger patients with primary hyperparathyroidism, there is a higher prevalence of familial hyperparathyroidism including germline inactivating mutations of the calcium-sensing receptor genes that result in either neonatal severe hyperparathyroidism or familial hypocalciuric hypercalcemia. Parathyroid scintigraphy and ultrasound are complementary, first-line imaging modalities for localizing hyperfunctioning parathyroid glands. Second-line imaging modalities are multiphase computed tomography (CT) and magnetic resonance imaging. In pediatrics, multiphase CT protocols should be adjusted to optimize radiation dose. Although, the role of these imaging modalities is better established in preoperative localization of hyperfunctioning parathyroid glands in primary hyperparathyroidism, the same principles apply in secondary and tertiary hyperparathyroidism. In this manuscript, we will review the embryology, anatomy, pathophysiology and preoperative localization of parathyroid glands as well as several subtypes of primary familial hyperparathyroidism. While most of the recent imaging literature centers on adults, we will focus on the issues that are pertinent and applicable to pediatrics.
Keywords: Children; Computed tomography; Familial hyperparathyroidism; Hyperparathyroidism; Neonatal severe primary hyperparathyroidism; Parathyroid glands; Scintigraphy ultrasound.