{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T23:07:15Z","timestamp":1788304035383,"version":"build-2803163510"},"reference-count":74,"publisher":"The Endocrine Society","issue":"9","funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Context<\/jats:title><jats:p>Familial isolated hyperparathyroidism (FIHP) is defined as familial primary hyperparathyroidism (FH) without a characteristic extraparathyroidal feature of a more complex hyperparathyroid syndrome. New concepts of FIHP have been developed within this definition. FIHP has been difficult to study due to small kindreds and mildly symptomatic cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Evidence Acquisition<\/jats:title><jats:p>Searches were through PubMed for FIHP, other FH syndromes, and the gene(s) mutated in each.<\/jats:p><\/jats:sec><jats:sec><jats:title>Evidence Synthesis<\/jats:title><jats:p>Within its definition, the current concept of FIHP has clinical and mutational components that can include incomplete expressions of multiple endocrine neoplasia type 1 (MEN1) familial hypocalciuric hypercalcemia, hyperparathyroidism-jaw tumor syndromes, or their mutations. Newest concepts of FIHP focus on kindreds without mutation of the MEN1, CASR, or CDC73 genes; 17% have germline activating mutation of the gene for the GCM2 transcription factor. The FIHP kindreds with or without GCM2 mutation contain a median of only two cases of primary hyperparathyroidism. The small kindred size in both subgroups of FIHP is probably caused by a low rate of screening among relatives. Persons with FIHP and GCM2 mutation present as adults with mild hypercalcemia and multiple parathyroid tumors.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The current concept of FIHP led to a focus on small kindreds without mutation of MEN1, CASR, or CDC73. These assisted in identifying germline activating GCM2 mutations in 17% of kindreds. Clinical and mutational characterization in more cases is needed to determine if there are any unique clinical features of FIHP, with or without mutation of GCM2.<\/jats:p><\/jats:sec>","DOI":"10.1210\/jc.2018-02789","type":"journal-article","created":{"date-parts":[[2019,3,8]],"date-time":"2019-03-08T09:18:44Z","timestamp":1552036724000},"page":"4058-4066","source":"Crossref","is-referenced-by-count":36,"title":["New Concepts About Familial Isolated Hyperparathyroidism"],"prefix":"10.1210","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9317-332X","authenticated-orcid":false,"given":"Stephen J","family":"Marx","sequence":"first","affiliation":[{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2019,3,8]]},"reference":[{"key":"2019080617344212600_bib1","first-page":"629","article-title":"Familial states of primary hyperparathyroidism","volume-title":"Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism","author":"Arnold","year":"2019","edition":"9th ed"},{"issue":"1","key":"2019080617344212600_bib2","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/jbmr.3650","article-title":"Evolution of our understanding of the hyperparathyroid syndromes: a historical perspective","volume":"34","author":"Marx","year":"2019","journal-title":"J Bone Miner Res"},{"issue":"1","key":"2019080617344212600_bib3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/00005792-200201000-00001","article-title":"Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds","volume":"81","author":"Simonds","year":"2002","journal-title":"Medicine (Baltimore)"},{"issue":"3","key":"2019080617344212600_bib4","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1136\/jmg.2003.016725","article-title":"Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications","volume":"41","author":"Warner","year":"2004","journal-title":"J Med Genet"},{"issue":"1","key":"2019080617344212600_bib5","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1111\/j.1365-2265.2006.02534.x","article-title":"Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome","volume":"65","author":"Mizusawa","year":"2006","journal-title":"Clin Endocrinol (Oxf)"},{"key":"2019080617344212600_bib6","doi-asserted-by":"crossref","DOI":"10.1007\/978-1-4419-5550-0_13","article-title":"Hyperparathyroidism-jaw tumor syndrome","volume-title":"Diseases of the Parathyroid Glands","author":"Calabria","year":"2012"},{"issue":"12","key":"2019080617344212600_bib7","doi-asserted-by":"crossref","first-page":"1621","DOI":"10.1002\/humu.23337","article-title":"Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma","volume":"38","author":"Cardoso","year":"2017","journal-title":"Hum Mutat"},{"issue":"6","key":"2019080617344212600_bib8","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1097\/00000658-193612000-00002","article-title":"Hyperparathyroidism in siblings","volume":"104","author":"Goldman","year":"1936","journal-title":"Ann Surg"},{"issue":"4","key":"2019080617344212600_bib9","doi-asserted-by":"crossref","first-page":"246","DOI":"10.3949\/ccjm.14.4.246","article-title":"Primary hyperparathyroidism report of 10 cases","volume":"14","author":"Schneider","year":"1947","journal-title":"Cleve Clin Q"},{"issue":"6","key":"2019080617344212600_bib10","first-page":"1020","article-title":"Parathyroid adenoma; occurrence in father and daughter","volume":"24","author":"Shallow","year":"1948","journal-title":"Surgery"},{"issue":"4","key":"2019080617344212600_bib11","doi-asserted-by":"crossref","first-page":"765","DOI":"10.7326\/0003-4819-40-4-765","article-title":"Primary hyperparathyroidism; five cases in one family","volume":"40","author":"Frohner","year":"1954","journal-title":"Ann Intern Med"},{"issue":"6","key":"2019080617344212600_bib12","first-page":"671","article-title":"Hyperparathyroidism in identical twins, one of whom suffered concomitantly of Boeck\u2019s sarcoidosis","volume":"7","author":"Snapper","year":"1958","journal-title":"Metabolism"},{"issue":"1","key":"2019080617344212600_bib13","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1097\/00000441-193901000-00011","article-title":"Hyperparathyroidism due to parathyroid adenoma. 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