Primary hyperparathyroidism(PHPT) is the most frequent cause of hypercalcemia in ambulatory patients. The condition is most common in postmenopausal women, although it can occur in persons of all ages, including pregnant women. If symptoms are present, they are attributable to hypercalcemia and may include weakness, easy fatigability, anorexia, or anxiety.The following genes have been associated with familial PHPT: the tumour suppressor MEN1 in multiple endocrine neoplasia type 1 syndrome and familial isolated primary hyperparathyroidism (FIHP); the proto-oncogene RET in MEN 2A syndrome; CDKN1B in MEN 4 syndrome; inactivating mutations in CASR (which encodes the calcium-sensing receptor) in FIHP; GCM2 in FIHP17 and CDC73 in hyperparathyroidism-jaw tumour syndrome, which is also associated with an increased risk of parathyroid carcinoma. Mutations in PRUNE2 (which encodes protein prune homologue 2) have also been associated with the development of parathyroid cancer18. Other work indicates that microRNA 296 might be a novel tumour suppressor gene in parathyroid carcinoma19. The genetics and characteristics of familial hypocalciuric hypercalcaemia (FHH), which is not considered a form of PHPT, are discussed in the following section.

References

1.Marcella D. Walker. Nat Rev Endocrinol. 2018 February ; 14(2): 115–125.