{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T04:57:52Z","timestamp":1789534672502,"version":"build-2803163510"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,1,4]],"date-time":"2006-01-04T00:00:00Z","timestamp":1136332800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Objective\u2002<\/jats:bold> Familial isolated primary hyperparathyroidism (FIPH) can result from either incomplete expression of a syndromic form of familial primary hyperparathyroidism [multiple endocrine neoplasia type\u00a01 (MEN\u00a01), hyperparathyroidism\u2013jaw tumour syndrome (HPT\u2010JT) or familial hypocalciuric hypercalcaemia (FHH)] or still unrecognized causes.<\/jats:p><jats:p><jats:bold>Design\u2002<\/jats:bold> Genetic analyses of <jats:italic>MEN1<\/jats:italic>, <jats:italic>HRPT2<\/jats:italic> and <jats:italic>CASR<\/jats:italic> genes in FIHP.<\/jats:p><jats:p><jats:bold>Patients\u2002<\/jats:bold> Seven well\u2010characterized Italian kindreds with FIHP, with negative clinical features for MEN\u00a01, HPT\u2010JT and FHH. The mean age (\u00b1\u00a0SD) at diagnosis was 45\u00a0\u00b1\u00a017\u00a0years (range 18\u201370\u00a0years) in the probands and 42\u00a0\u00b1\u00a018\u00a0years (range 15\u201369\u00a0years) in the other affected subjects.<\/jats:p><jats:p><jats:bold>Measurements\u2002<\/jats:bold> Direct sequencing of germline DNA of the <jats:italic>MEN1<\/jats:italic>, <jats:italic>HRPT2<\/jats:italic> and <jats:italic>CASR<\/jats:italic> genes from probands. The region of interest was amplified in some family members.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> Germline <jats:italic>MEN1<\/jats:italic> mutations were detected in three kindreds. Multiglandular involvement was found in all but one affected subject belonging to the three kindreds with <jats:italic>MEN1<\/jats:italic> mutations. In these patients persistence\/relapse of the disease was observed unless an extensive parathyroidectomy (excision of 3<jats:sup>1<\/jats:sup>\/<jats:sub>2<\/jats:sub> glands) had been performed, with the exception of one patient, who is currently normocalcaemic 168\u00a0months after excision of two glands. No mutations of <jats:italic>MEN1<\/jats:italic>, <jats:italic>HRPT2<\/jats:italic> and <jats:italic>CASR<\/jats:italic> genes were identified in the remaining four families.<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold>  <jats:italic>MEN1<\/jats:italic> genotyping appears worthwhile in FIHP families, as the finding of mutation(s) may predict multiglandular involvement and therefore have practical surgical implications, and prompt further investigation in the family, with the possibility of identifying new cases and beginning a programme of periodic surveillance for emergence of tumours in all carriers.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2006.02438.x","type":"journal-article","created":{"date-parts":[[2006,1,19]],"date-time":"2006-01-19T10:13:27Z","timestamp":1137665607000},"page":"146-152","source":"Crossref","is-referenced-by-count":54,"title":["Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management"],"prefix":"10.1111","volume":"64","author":[{"given":"Filomena","family":"Cetani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Pardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Ambrogini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Lemmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Borsari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisella","family":"Cianferotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edda","family":"Vignali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Viacava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piero","family":"Berti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Mariotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aldo","family":"Pinchera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Marcocci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,1,4]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200201000-00001"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200012213432508"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.276.5311.404"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/301729"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1400429"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF03347483"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90617-Y"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1048"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.9.657"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-031016"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-0294"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<221::AID-AJMG8>3.0.CO;2-1"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.8.2621"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.1.165"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2002.01502.x"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1470313"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2003.01765.x"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1086\/302097"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016725"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030675"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.012369"},{"key":"e_1_2_6_23_2","first-page":"1","volume-title":"The Parathyroids: Basic and Clinical Concepts","author":"LiVolsi V.A.","year":"2001"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-012098651-4\/50022-5"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021370"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0215(20000715)87:2<306::AID-IJC26>3.0.CO;2-N"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0215(20000715)87:2<305::AID-IJC25>3.0.CO;2-R"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2005.02219.x"},{"key":"e_1_2_6_29_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1759"},{"key":"e_1_2_6_30_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.87.6.2688"},{"key":"e_1_2_6_31_2","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1210\/jcem.82.5.3944","article-title":"Loss of heterozygosity at 11q13: analysis of pituitary tumors, lung carcinoids, lipomas, and other uncommon tumors in subject with familial multiple endocrine neoplasia type","volume":"82","author":"Dong D.","year":"1997","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"e_1_2_6_32_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.6.2114"},{"key":"e_1_2_6_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80967-8"},{"key":"e_1_2_6_34_2","doi-asserted-by":"publisher","DOI":"10.1136\/gut.48.1.1"},{"key":"e_1_2_6_35_2","doi-asserted-by":"publisher","DOI":"10.1001\/archsurg.1996.01430230112020"},{"key":"e_1_2_6_36_2","first-page":"649","article-title":"Parathyroid carcinoma versus parathyroid adenoma in patients with profound hypercalcemia","volume":"101","author":"Levin K.E.","year":"1987","journal-title":"Surgery"}],"container-title":["Clinical Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2265.2006.02438.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2265.2006.02438.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T18:32:27Z","timestamp":1697221947000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2265.2006.02438.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,1,4]]},"references-count":35,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2006,2]]}},"alternative-id":["10.1111\/j.1365-2265.2006.02438.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2265.2006.02438.x","archive":["Portico"],"relation":{},"ISSN":["0300-0664","1365-2265"],"issn-type":[{"value":"0300-0664","type":"print"},{"value":"1365-2265","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,1,4]]}}}