The purpose of this study is the clinical and genetic characterization of individual patients and kindreds with parathyroid cancer, FIHP, and HPT-JT with the goals of defining the clinical spectrum of disease, searching for potential genotype-phenotype correlations relevant to mutation of known genes, and identifying new genes whose germline mutation predisposes to FIHP and related syndromes. Human research subjects included patients admitted to the NIH Clinical Center on Metabolic Diseases Branch and related protocols as well as qualified offsite patients. Gene mutational analysis, biochemical testing of blood and urine, culture and testing of isolated peripheral blood leukocytes, and imaging using plain X-rays, CT and MRI scanning, and nuclear medicine studies were used to characterize patients. Some patients were characterized during one or a few visits, while members of selected kindreds were followed longitudinally over years.

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14
Fiscal Year
2015
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U.S. National Inst Diabetes/Digst/Kidney
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Simonds, William F (2017) Genetics of Hyperparathyroidism, Including Parathyroid Cancer. Endocrinol Metab Clin North Am 46:405-418
Nilubol, Naris; Weinstein, Lee S; Simonds, William F et al. (2016) Limited Parathyroidectomy in Multiple Endocrine Neoplasia Type 1-Associated Primary Hyperparathyroidism: A Setup for Failure. Ann Surg Oncol 23:416-23
Li, Yulong; Simonds, William F (2016) Endocrine neoplasms in familial syndromes of hyperparathyroidism. Endocr Relat Cancer 23:R229-47
Guan, Bin; Welch, James M; Sapp, Julie C et al. (2016) GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. Am J Hum Genet 99:1034-1044
Sadowski, Samira M; Millo, Corina; Cottle-Delisle, Candice et al. (2015) Results of (68)Gallium-DOTATATE PET/CT Scanning in Patients with Multiple Endocrine Neoplasia Type 1. J Am Coll Surg 221:509-17
Mehta, Amit; Patel, Dhaval; Rosenberg, Avi et al. (2014) Hyperparathyroidism-jaw tumor syndrome: Results of operative management. Surgery 156:1315-24; discussion 1324-5
Weisbrod, Allison B; Nilubol, Naris; Weinstein, Lee S et al. (2013) Association of type-O blood with neuroendocrine tumors in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab 98:E109-14
Nilubol, Naris; Weisbrod, Allison B; Weinstein, Lee S et al. (2013) Utility of intraoperative parathyroid hormone monitoring in patients with multiple endocrine neoplasia type 1-associated primary hyperparathyroidism undergoing initial parathyroidectomy. World J Surg 37:1966-72
Simonds, William F (2012) A new look at vitamin D metabolism and ""idiopathic"" hypercalcemia. J Clin Endocrinol Metab 97:384-6
Simonds, William F; Varghese, Sarah; Marx, Stephen J et al. (2012) Cushing's syndrome in multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf) 76:379-86

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