Primary hyperparathyroidism

Definition:

Familial hyperparathyroidism (HRPT) is characterized by parathyroid adenoma and hyperplasia with hypersecretion of parathyroid hormone and hypercalcaemia. It is caused by mutation in the HRPT2 (CDC73 or Parafibromin) gene that also causes the hyperparathyroidism-jaw tumor syndrome. Sporadic cases are also known to occur with somatic mutations within the MEN1 gene.

References:

[1]. Bin Guan, et al. GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. Am J Hum Genet. 2016 Nov 3;99(5):1034-1044. [Content Brief]

[2]. F Cetani, et al. Hyperparathyroidism 2 gene (HRPT2, CDC73) and parafibromin studies in two patients with primary hyperparathyroidism and uncertain pathological assessment. J Endocrinol Invest. 2008 Oct;31(10):900-4. [Content Brief]

[3]. P F Wang, et al. HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome. Horm Metab Res. 2005 Jun;37(6):380-3. [Content Brief]

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