GENETIC ALTERATIONS IN PRIMARY AND SECONDARY HYPERPARATHYROIDISM

Hyperparathyroidism refers to a term representing a wide spectrum of p arathyroid disorders that are characterized by the increased productio n of parathyroid hormone. Hyperparathyroidism was once thought to be r are but is now more commonly recognized, affecting 1 in 500 women over 40 years of age. Yet the interpretation of parathyroid pathology is s till controversial and confusing. Over the past 10 years, genetic chan ges (ret and menin genes) involved in the pathogenesis of MEN 2 and ME N I have been discovered in succession. Different mutations of the cal cium-sensing receptor gene have been identified in neonatal severe hyp erparathyroidism and familial hypocalciuric hypercalcemia, respectivel y. The HRPT 2 gene responsible for the development of hereditary hyper parathyroidism and jaw tumors has been localized on the 1q21-31 locus. Several genetic alterations have also been characterized in primary a nd secondary hyperparathyroidism, Different genetic alterations appear to involve the development of different types of hyperparathyroidism. These novel advances give us new insights into the pathogenesis of hy perparathyroidism and allow better differentiation between the differe nt types of parathyroid disorders.