{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T16:18:42Z","timestamp":1764260322169,"version":"3.41.2"},"reference-count":10,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2023,8,14]],"date-time":"2023-08-14T00:00:00Z","timestamp":1691971200000},"content-version":"vor","delay-in-days":44,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>A 21-year-old woman presented with polyuria, fragility fractures, and a history of recurrent renal calculi, which was also present in her maternal aunt. Examination revealed an oval palpable mass in the neck. Biochemistry revealed a grossly elevated serum calcium, PTH, and serum alkaline phosphatase with low serum phosphorous, suggestive of primary hyperparathyroidism. Ultrasonography of the neck and parathyroid scintigraphy localized a large lesion arising from the right posterior and inferior aspect of the thyroid gland, suggesting a parathyroid tumor. Parathyroid carcinoma was suspected based on the severe clinical manifestations. A computed tomography scan of the abdomen revealed cysts in the kidneys, bilateral medullary nephrocalcinosis, left ectopic-pelvic kidney, and lytic lesions in the iliac bone. The patient underwent a right inferior parathyroidectomy with normalization of serum calcium postoperatively. Histopathologic examination revealed a parathyroid adenoma, which was contrary to the expectation. Whole exome sequencing in the index case revealed a novel 99-bp heterozygous insertion, likely pathogenic variant in the exon 2 of CDC73 gene causing hyperparathyroidism jaw tumor syndrome. Here, we report a rare case of hyperparathyroidism jaw tumor syndrome that presented with severe hypercalcemia, renal cysts, and an ectopic-pelvic kidney without jaw tumor or uterine abnormalities.<\/jats:p>","DOI":"10.1210\/jcemcr\/luad098","type":"journal-article","created":{"date-parts":[[2023,8,14]],"date-time":"2023-08-14T17:40:29Z","timestamp":1692034829000},"source":"Crossref","is-referenced-by-count":2,"title":["A Novel <i>CDC73<\/i> Gene Mutation in Hyperparathyroidism Jaw Tumor Syndrome Associated With Ectopic-pelvic Kidney"],"prefix":"10.1210","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6189-6005","authenticated-orcid":false,"given":"Vijay Sheker Reddy","family":"Danda","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Gandhi Medical College\/Hospital, KNR University of Health Sciences , Hyderabad, Telangana 500003 , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6399-6288","authenticated-orcid":false,"given":"Vivek","family":"Kyatham","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Gandhi Medical College\/Hospital, KNR University of Health Sciences , Hyderabad, Telangana 500003 , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9163-6578","authenticated-orcid":false,"given":"Srinivas Rao","family":"Paidipally","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Gandhi Medical College\/Hospital, KNR University of Health Sciences , Hyderabad, Telangana 500003 , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1705-0675","authenticated-orcid":false,"given":"Sharmila","family":"Palli","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Gandhi Medical College\/Hospital, KNR University of Health Sciences , Hyderabad, Telangana 500003 , India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2023,8,14]]},"reference":[{"key":"2023081417402079400_luad098-B1","doi-asserted-by":"crossref","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"},{"issue":"4","key":"2023081417402079400_luad098-B2","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","author":"Carpten","year":"2002","journal-title":"Nat Genet"},{"issue":"3","key":"2023081417402079400_luad098-B3","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","author":"Newey","year":"2010","journal-title":"Hum Mutat"},{"issue":"5","key":"2023081417402079400_luad098-B4","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"10","key":"2023081417402079400_luad098-B5","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.1359\/jbmr.060702","article-title":"Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation","volume":"21","author":"Kelly","year":"2006","journal-title":"J Bone Miner Res"},{"issue":"8","key":"2023081417402079400_luad098-B6","doi-asserted-by":"crossref","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":"Langenbecks Arch Surg"},{"issue":"8","key":"2023081417402079400_luad098-B7","first-page":"895","article-title":"Renal neoplasia in the hyperparathyroidism-jaw tumor syndrome","volume":"4","author":"Tan","year":"2004","journal-title":"CurrMol Med"},{"key":"2023081417402079400_luad098-B8","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.urology.2018.11.013","article-title":"CDC73 germline mutation in a family with mixed epithelial and stromal tumors","volume":"124","author":"Vocke","year":"2019","journal-title":"Urology"},{"issue":"9","key":"2023081417402079400_luad098-B9","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1530\/ERC-20-0149","article-title":"Genotype of CDC73 germline mutation determines risk of parathyroid cancer","volume":"27","author":"Li","year":"2020","journal-title":"EndocrRelat Cancer"},{"issue":"5","key":"2023081417402079400_luad098-B10","doi-asserted-by":"crossref","first-page":"433","DOI":"10.5152\/tud.2018.22058","article-title":"Renal cell carcinoma in ectopic-pelvic kidney: a rare case with review of literature","volume":"44","author":"Alokour","year":"2018","journal-title":"Turk J Urol"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/1\/4\/luad098\/51111155\/luad098.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/1\/4\/luad098\/51111155\/luad098.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,14]],"date-time":"2023-08-14T17:40:33Z","timestamp":1692034833000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luad098\/7242399"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,1]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,7,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luad098","relation":{},"ISSN":["2755-1520"],"issn-type":[{"type":"electronic","value":"2755-1520"}],"subject":[],"published-other":{"date-parts":[[2023,7]]},"published":{"date-parts":[[2023,7,1]]},"article-number":"luad098"}}