{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:13:46Z","timestamp":1753877626466,"version":"3.41.2"},"reference-count":8,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2025,1,18]],"date-time":"2025-01-18T00:00:00Z","timestamp":1737158400000},"content-version":"vor","delay-in-days":17,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,18]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Hyperparathyroidism Jaw Tumour Syndrome (HPT-JT) is a rare autosomal dominant disorder within the familial hyperparathyroidism group. Individuals with the disorder carry a CDC73 gene mutation that predisposes them to early-onset primary hyperparathyroidism, ossifying jaw tumours, renal cystic disease, uterine tumours and parathyroid carcinomas. We present a case of a 41-year-old man referred to nephrology clinic with haemoproteinuria who was noted to have the constellation of renal cystic disease, personal and family history of hyperparathyroidism and recent jaw tumour excision. Detailed family history prompted whole exome genetic testing which confirmed the presence of a pathogenic CDC73 gene mutation, ten years after the patient\u2019s initial parathyroidectomy. This case demonstrates the importance of detailed family history taking and the need to consider lesser-known familial hyperparathyroid syndromes to ensure timely diagnosis, genetic testing and cancer surveillance for those affected.<\/jats:p>","DOI":"10.1093\/omcr\/omae162","type":"journal-article","created":{"date-parts":[[2025,1,18]],"date-time":"2025-01-18T13:28:02Z","timestamp":1737206882000},"source":"Crossref","is-referenced-by-count":0,"title":["Biting off more than you can chew: a rare case of hyperparathyroidism jaw tumour syndrome"],"prefix":"10.1093","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-5809-808X","authenticated-orcid":false,"given":"Breanna L","family":"Hollow","sequence":"first","affiliation":[{"name":"Fiona Stanley Hospital Medical Registrar and Basic Physician Trainee, , Perth, WA,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Chin","sequence":"additional","affiliation":[{"name":"Fiona Stanley Hospital Consultant Nephrologist\u2013Department of Nephrology and Transplantation, , Perth, WA,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,1,18]]},"reference":[{"volume-title":"Wolters Kluwer","author":"UptoDate","key":"2025011813275133800_ref1"},{"volume-title":"Hyperparathyroidism-Jaw Tumour Syndrome \u2013 Risk Management","author":"eVIQ","key":"2025011813275133800_ref2"},{"key":"2025011813275133800_ref3","doi-asserted-by":"publisher","first-page":"1006400","DOI":"10.3389\/fcell.2022.1006400","article-title":"The roles of the tumor suppressor parafibromin in cancer","volume":"10","author":"Zheng","year":"2022","journal-title":"Front Cell Dev Biol"},{"key":"2025011813275133800_ref4","doi-asserted-by":"publisher","first-page":"1761030","DOI":"10.1155\/2019\/1761030","article-title":"Clinical features, treatment, and surveillance of hyperparathyroidism-jaw tumor syndrome: an up-to-date and review of the literature","volume":"2019","author":"Torresan","year":"2019","journal-title":"Int J Endocrinol"},{"key":"2025011813275133800_ref5","first-page":"1006","article-title":"Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome","volume":"108","author":"Jackson","year":"1990","journal-title":"Surgery"},{"key":"2025011813275133800_ref6","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1038\/ng1048","article-title":"Villablanca a et\u00a0al HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome","volume":"32","author":"Carpten","year":"2002","journal-title":"Nat Genetics"},{"key":"2025011813275133800_ref7","doi-asserted-by":"publisher","first-page":"867","DOI":"10.1007\/s00423-015-1342-7","article-title":"Hereditary hyperparathyroidism\u2014a consensus report of the European Society of Endocrine Surgeons (ESES)","volume":"400","author":"Iacobone","year":"2015","journal-title":"Langenbeck's Arch Surg"},{"key":"2025011813275133800_ref8","doi-asserted-by":"publisher","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"}],"container-title":["Oxford Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2025\/1\/omae162\/61490515\/omae162.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2025\/1\/omae162\/61490515\/omae162.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,18]],"date-time":"2025-01-18T13:28:04Z","timestamp":1737206884000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/omcr\/article\/doi\/10.1093\/omcr\/omae162\/7959919"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1,18]]}},"URL":"https:\/\/doi.org\/10.1093\/omcr\/omae162","relation":{},"ISSN":["2053-8855"],"issn-type":[{"type":"electronic","value":"2053-8855"}],"subject":[],"published-other":{"date-parts":[[2025,1]]},"published":{"date-parts":[[2025,1]]},"article-number":"omae162"}}