Primary hyperparathyroidism is an endocrine disorder featured by an excessive and unregulated secretion of parathyroid hormone from one or more parathyroid glands. Generally, it can occur at any age, but it is seen most commonly in the sixth decade of life. It represents a rare endocrine disease in children and young adults and its occurrence in these subjects strongly suggest the possibility of facing a hyperparathyroidism familial syndrome. Molecular genetics have provided new acquisitions on parathyroid tumorigenesis in the last decade. Mutations in specific genes have been demonstrated to account for the parathyroid tissue outgrowth. The availability of specific DNA testing has improved diagnostic accuracy and simplified family monitoring in many cases. Here, a brief review on clinical, pathological and genetic aspects of primary hyperparathyroidism in the setting of hereditary forms of the disease is treated.
KEY WORDS: primary hyperparathyroidism, hypercalcemia, hereditary hyperparathyroidism, clinical management, DNA testing.