title: Molecular pathogenesis of primary hyperparathyroidism.
abstract: Primary hyperparathyroidism (PHPT) is a common endocrinopathy, mostly caused by a monoclonal parathyroid adenoma. The hereditary syndromes include multiple endocrine neoplasia types 1 (MEN 1) and 2A (MEN 2A), hereditary hyperparathyroidism-jaw tumor (HPTJT), familial isolated hyperparathyroidism (FIHP), familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). Mutations of MEN1 and CDKN1B genes are responsible for MEN 1 in 70-80% and about 2% of cases, respectively. MEN1 and CDKN1B genes have also a role in the pathogenesis of sporadic parathyroid adenomas. HRPT2/CDC73 gene mutations are responsible for HPT-JT and sporadic parathyroid carcinoma. MEN1 and HRPT2/CDC73 genes mutations have also been found in a subset of FIHP families. FHH and NSHPT represent the mildest and severest variants of PHPT, caused by heterozygous and homozygous mutations in the calcium sensing receptor (CASR) gene, respectively.
authors: Department of Endocrinology and Metabolism, University of Pisa, Pisa, Italy. cetani@endoc.med.unipi.it
authors: F
authors: F
authors: Cetani
authors: E
authors: E
authors: Pardi
authors: S
authors: S
authors: Borsari
authors: C
authors: C
authors: Marcocci
mesh_terms: D000818:Animals; D050760:Cyclin-Dependent Kinase Inhibitor p27 / Q000235:genetics; D006801:Humans; D006961:Hyperparathyroidism / Q000235:genetics; D049950:Hyperparathyroidism, Primary / Q000235:genetics*; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics; D010282:Parathyroid Neoplasms / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D044169:Receptors, Calcium-Sensing / Q000235:genetics
chemical_list: C095550:CASR protein, human; C436291:CDKN1B protein, human; C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins; D044169:Receptors, Calcium-Sensing; D050760:Cyclin-Dependent Kinase Inhibitor p27