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Martin Almquist, Elin Isaksson, and Naomi Clyne

Introduction Hyperparathyroidism is relatively common. Primary hyperparathyroidism is the third most common endocrine disorder with a lifetime risk of 1% ( Shindo et al. 2016 ). Secondary hyperparathyroidism has an external etiology and can

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Carole Guerin, Pauline Romanet, David Taieb, Thierry Brue, André Lacroix, Frederic Sebag, Anne Barlier, and Frederic Castinetti

development of pheochromocytoma (PHEO), and less frequently of hyperparathyroidism (HPTH). The aim of this review is first to detail the main characteristics and the management of MEN2 PHEO and then to define the main other etiologies of hereditary bilateral

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Jessica Svedlund, Elham Barazeghi, Peter Stålberg, Per Hellman, Göran Åkerström, Peyman Björklund, and Gunnar Westin

Introduction Parathyroid disease with hypersecretion of parathyroid hormone and generally also hypercalcemia occurs in primary hyperparathyroidism (pHPT), due to growth regulatory disturbance in the parathyroid glands. pHPT is caused by a single

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Yulong Li and William F Simonds

Introduction Primary hyperparathyroidism has an estimated pre­valence of 0.1% in the United States. Familial forms represent some 2–5% of primary hyperparathyroidism and are caused by germline genetic mutations ( Table 1 ). Among these

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Arthur Varoquaux, Electron Kebebew, Fréderic Sebag, Katherine Wolf, Jean-François Henry, Karel Pacak, and David Taïeb

-sensing receptor ( CASR ) cause inherited primary hyperparathyroidism (PHPT), which accounts for 5–10% of all cases. These mutations are commonly found in young patients with clinically nonfamilial PHPT ( Starker et al . 2012 ). Other parathyroid tumors may be due

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Kelly Brewer, Jessica Costa-Guda, and Andrew Arnold

Introduction Primary hyperparathyroidism (PHPT) occurs across all age groups and genders, with an estimated incidence of 21.1–65.5 per 100,000 person-years and prevalence of 0.6–36.0 per 1000 population ( Christensson et al. 1976 , Mundy

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Nancy D Perrier, Andrew Arnold, Jessica Costa-Guda, Naifa L Busaidy, Ha Nguyen, Hubert H Chuang, and Maria Luisa Brandi

rarest causes of primary hyperparathyroidism (PHPT) (~1%), with the tendency to present with more severe symptoms of hypercalcemia than its benign counterparts (adenomas and hyperplasia) ( Lee et al. 2007 , Fraser 2009 ). PC is the least common

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Chiara Verdelli, Irene Forno, Annamaria Morotti, Pasquale Creo, Vito Guarnieri, Alfredo Scillitani, Filomena Cetani, Leonardo Vicentini, Gianni Balza, Edoardo Beretta, Stefano Ferrero, Valentina Vaira, and Sabrina Corbetta

Introduction Parathyroid tumors are almost invariably associated with parathormone (PTH) hypersecretion, which defines the endocrine disease hyperparathyroidism. Primary hyperparathyroidism is associated with bone and kidney complications

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Inga-Lena Nilsson, Jan Zedenius, Li Yin, and Anders Ekbom

Introduction Primary hyperparathyroidism (pHPT) has been associated with various malignancies, as well as with premature death in malignant disorders ( Palmer et al. 1988 , Hedback et al. 1990 , Pickard et al. 2002 , Michels

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Giulia Masi, Luisa Barzon, Maurizio Iacobone, Giovanni Viel, Andrea Porzionato, Veronica Macchi, Raffaele De Caro, Gennaro Favia, and Giorgio Palù

Introduction The hyperparathyroidism-jaw tumor syndrome (HPT-JT; online Mendelian inheritance in man (OMIM)#145001) is an autosomal dominant syndrome with incomplete penetrance, characterized by the occurrence of parathyroid tumors (with a