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Horm Metab Res 2020; 52(08): 578-587
DOI: 10.1055/a-1132-6223
Review

Clinical and Molecular Genetics of Primary Hyperparathyroidism

William F. Simonds
1   Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA
› Author Affiliations Funding: The Intramural Research Program of the National Institute of Diabetes and Digestive and Kidney Diseases (ZIA DK043012–18) supported this research.
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Abstract

Calcium homeostasis is maintained by the actions of the parathyroid glands, which release parathyroid hormone into the systemic circulation as necessary to maintain the serum calcium concentration within a tight physiologic range. Excessive secretion of parathyroid hormone from one or more neoplastic parathyroid glands, however, causes the metabolic disease primary hyperparathyroidism (HPT) typically associated with hypercalcemia. Although the majority of cases of HPT are sporadic, it can present in the context of a familial syndrome. Mutations in the tumor suppressor genes discovered by the study of such families are now recognized to be pathogenic for many sporadic parathyroid tumors. Inherited and somatic mutations of proto-oncogenes causing parathyroid neoplasia are also known. Future investigation of somatic changes in parathyroid tumor DNA and the study of kindreds with HPT yet lacking germline mutation in the set of genes known to predispose to HPT represent two avenues likely to unmask additional novel genes relevant to parathyroid neoplasia.

Key words

tumor suppressor - oncogene - multiple endocrine neoplasia - MEN1 - MEN2A - jaw tumor syndrome - CDC73 - GCM2


Publication History

Received: 09 December 2019

Accepted: 25 February 2020

Article published online:
30 March 2020

© Georg Thieme Verlag KG
Stuttgart · New York

 

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