Sporadic and hereditary primary hyperparathyroidism
J. Pepe1, C. Cipriani1, R. Pilotto1, F. De Lucia1, C. Castro1, L. Lenge1, S. Russo1, V. Guarnieri2, A. Scillitani2, V. Carnevale3, E. D’Erasmo1, E. Romagnoli1, and S. Minisola1
1Department of Internal Medicine and Medical Disciplines, University of Rome “Sapienza”, Rome; 2Unit of Endocrinology; 3Unit of Internal Medicine, Casa Sollievo della Sofferenza Hospital, IRCCS, San Giovanni Rotondo (FG), Italy

Primary hyperparathyroidism (PHPT) is a common endocrine disorder, particularly frequent in post-menopausal women. It is characterized by hypercalcemia with inappropriately high spontaneous plasma PTH. Single-gland adenoma is the most common cause (75-85%). PHPT is usually a sporadic disease but in approximately <5% of cases, a familial hyperparathyroid syndrome is diagnosed. Familial hyperparathyroidism is a clinically and genetically heterogeneous group of disorders including: multiple endocrine neoplasia (MEN) type 1, MEN type 2A, MEN4, benign familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, hyperparathyroidism-jaw tumor syndrome, and familial isolated hyperparathyroidism. These syndromes show mendelian inheritance patterns and the main genes for most of them have been defined. The classic form of PHPT, which presents with hypercalcemia, kidney stones, and bone disease, is no longer common. Currently, there is an increasing interest in the subtle manifestations of PHPT, particularly the cardiovascular and neuropsychiatric manifestations. Parathyroidectomy is the definitive cure for PHPT even though patients with the asymptomatic form of the disease can be followed conservatively. [J. Endocrinol. Invest. 34 (Suppl. to no. 7): 40-44, 2011] ©2011, Editrice Kurtis

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