{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:16:43Z","timestamp":1784557003788,"version":"3.55.0"},"reference-count":24,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2018,3,8]],"date-time":"2018-03-08T00:00:00Z","timestamp":1520467200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/deed.en_GB"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,3,8]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Primary hyperparathyroidism (PH) is a common endocrine abnormality and may occur as part of a genetic syndrome. Inactivating mutations of the tumour suppressor gene\n                    <jats:italic>CDC73<\/jats:italic>\n                    have been identified as accounting for a large percentage of hyperparathyroidism-jaw tumour syndrome (HPT-JT) cases and to a lesser degree account for familial isolated hyperparathyroidism (FIHP) cases. Reports of\n                    <jats:italic>CDC73<\/jats:italic>\n                    whole gene deletions are exceedingly rare. We report the case of a 39 year-old woman with PH secondary to a parathyroid adenoma associated with a large chromosomal deletion (2.5\u2009Mb) encompassing the entire\n                    <jats:italic>CDC73<\/jats:italic>\n                    gene detected years after parathyroidectomy. This case highlights the necessity to screen young patients with hyperparathyroidism for an underlying genetic aetiology. It also demonstrates that molecular testing for this disorder should contain techniques that can detect large deletions.\n                  <\/jats:p>\n                  <jats:sec>\n                    <jats:title>Learning points:<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>Necessity of genetic screening for young people with hyperparathyroidism.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>\n                          Importance of screening for large, including whole gene\n                          <jats:italic>CDC73<\/jats:italic>\n                          deletions.\n                        <\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>\n                          Surveillance for patients with\n                          <jats:italic>CDC73<\/jats:italic>\n                          gene mutations includes regular calcium and parathyroid hormone levels, dental assessments and imaging for uterine and renal tumours.\n                        <\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-17-0164","type":"journal-article","created":{"date-parts":[[2018,3,8]],"date-time":"2018-03-08T05:59:59Z","timestamp":1520488799000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":3,"title":["Should all patients with hyperparathyroidism be screened for a CDC73 mutation?"],"prefix":"10.1530","volume":"2018","author":[{"given":"Caroline","family":"Bachmeier","sequence":"first","affiliation":[{"name":"1Endocrinology Department, Townsville Hospital, Townsville, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chirag","family":"Patel","sequence":"additional","affiliation":[{"name":"2Genetic Health Queensland, Royal Brisbane and Women\u2019s Hospital, Herston, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kanowski","sequence":"additional","affiliation":[{"name":"3Clinical Pathology\/Histopathology, Sullivan Nicolaides Pathology, Townsville, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunwarjit","family":"Sangla","sequence":"additional","affiliation":[{"name":"1Endocrinology Department, Townsville Hospital, Townsville, Queensland, Australia"},{"name":"4James Cook University, Townsville, Queensland, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref51","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1111\/j.1365-2265.2011.04184.x","article-title":"Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism","volume":"76","year":"2012","journal-title":"Clinical Endocrinology"},{"key":"ref61","doi-asserted-by":"publisher","first-page":"201398","DOI":"10.1210\/jc.2012-2789","article-title":"BricaireLOdouMFCardot Frequent large germline deletions in a French National cohort of patients with primary hyperparathyroidism of and https org","author":"HRPT","journal-title":"Journal Clinical Endocrinology Metabolism"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1210\/js.2016-1089","article-title":"Hyperparathyroidism-jaw tumor syndrome associated with large-scale 1q31 deletion","volume":"1","year":"2017","journal-title":"Journal of the Endocrine Society"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/ng1048","article-title":"HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome","volume":"32","year":"2002","journal-title":"Nature Genetics"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/ng1048","article-title":"HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome","volume":"32","year":"2002","journal-title":"Nature Genetics"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1002\/humu.21188","article-title":"Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors","volume":"31","year":"2010","journal-title":"Human Mutation"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/S0140-6736(09)60507-9","article-title":"Hyperparathyroidism","volume":"374","year":"2009","journal-title":"Lancet"},{"key":"ref191","first-page":"1324","article-title":"Hyperparathyroidism - jaw tumor syndrome results of operative management discussion https org","year":"1324","journal-title":"Surgery"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00198-016-3716-2","article-title":"Primary hyperparathyroidism: review and recommendations on evaluation, diagnosis, and management. A Canadian and international consensus","volume":"28","year":"2017","journal-title":"Osteoporosis International"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1056\/NEJM200012213432508","article-title":"Hyperparathyroid and hypoparathyroid disorders","volume":"343","year":"2000","journal-title":"New England Journal of Medicine"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1210\/js.2016-1089","article-title":"Hyperparathyroidism-jaw tumor syndrome associated with large-scale 1q31 deletion","volume":"1","year":"2017","journal-title":"Journal of the Endocrine Society"},{"key":"ref71","first-page":"1324","article-title":"Hyperparathyroidism - jaw tumor syndrome results of operative management discussion https org","year":"1324","journal-title":"Surgery"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1001\/jamasurg.2016.2310","article-title":"The American Association of Endocrine Surgeons Guidelines for definitive management of primary hyperparathyroidism","volume":"151","year":"2016","journal-title":"JAMA Surgery"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00198-016-3716-2","article-title":"Primary hyperparathyroidism: review and recommendations on evaluation, diagnosis, and management. A Canadian and international consensus","volume":"28","year":"2017","journal-title":"Osteoporosis International"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1002\/humu.21188","article-title":"Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors","volume":"31","year":"2010","journal-title":"Human Mutation"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1002\/gcc.20911","article-title":"Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family","volume":"50","year":"2011","journal-title":"Genes, Chromosomes and Cancer"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1530\/EC-17-0126","article-title":"Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumour syndrome.","volume":"6","year":"2017","journal-title":"Endocrine Connections"},{"key":"ref91","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1530\/EC-17-0126","article-title":"Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumour syndrome.","volume":"6","year":"2017","journal-title":"Endocrine Connections"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/S0140-6736(09)60507-9","article-title":"Hyperparathyroidism","volume":"374","year":"2009","journal-title":"Lancet"},{"key":"ref181","doi-asserted-by":"publisher","first-page":"201398","DOI":"10.1210\/jc.2012-2789","article-title":"BricaireLOdouMFCardot Frequent large germline deletions in a French National cohort of patients with primary hyperparathyroidism of and https org","author":"HRPT","journal-title":"Journal Clinical Endocrinology Metabolism"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"1863","DOI":"10.1056\/NEJM200012213432508","article-title":"Hyperparathyroid and hypoparathyroid disorders","volume":"343","year":"2000","journal-title":"New England Journal of Medicine"},{"key":"ref161","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1002\/gcc.20911","article-title":"Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family","volume":"50","year":"2011","journal-title":"Genes, Chromosomes and Cancer"},{"key":"ref231","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1001\/jamasurg.2016.2310","article-title":"The American Association of Endocrine Surgeons Guidelines for definitive management of primary hyperparathyroidism","volume":"151","year":"2016","journal-title":"JAMA Surgery"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1111\/j.1365-2265.2011.04184.x","article-title":"Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism","volume":"76","year":"2012","journal-title":"Clinical Endocrinology"}],"container-title":["Endocrinology, Diabetes &amp; Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2018\/1\/EDM17-0164.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2018\/1\/EDM17-0164.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:46:46Z","timestamp":1784555206000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3350"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,8]]},"references-count":24,"URL":"https:\/\/doi.org\/10.1530\/edm-17-0164","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,3,8]]}}}