{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:51:00Z","timestamp":1747198260667,"version":"3.40.5"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,16]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2022-0299_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Primary hyperparathyroidism (PHPT), whilst common in elderly populations, is rare in adolescents. Hereditary cases make up less than 10% of patients with\u00a0PH. We report two patients with <jats:italic>CDC73<\/jats:italic> mutation presenting in early adolescence.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0299_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Case 1: A 14-year-old patient was referred from an adolescent mental health unit with hypercalcaemia. Imaging revealed a parathyroid adenoma. Genetic testing of the patient showed a heterozygous deletion of\u00a0<jats:italic>CDC73<\/jats:italic>. Case 2: A 10-year-old patient was admitted to the\u00a0general paediatric ward with symptoms suggestive of\u00a0hypercalcaemia. The patient was known to carry an autosomal dominant mutation of <jats:italic>CDC73<\/jats:italic>. Imaging of the parathyroid gland showed bilateral adenoma.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2022-0299_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>We present two patients with <jats:italic>CDC73<\/jats:italic> defects, who both presented with symptoms of hypercalcaemia. The cases highlight the difference in paediatric populations with PHPT who are often symptomatic at the time of diagnosis when compared to adult patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2022-0299","type":"journal-article","created":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T08:20:25Z","timestamp":1664526025000},"page":"1547-1551","source":"Crossref","is-referenced-by-count":1,"title":["Heterozygous <i>CDC73<\/i> mutation causing hyperparathyroidism in children and adolescents: a report of 2 cases"],"prefix":"10.1515","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0744-5275","authenticated-orcid":false,"given":"James","family":"Blackburn","sequence":"first","affiliation":[{"name":"Department of Paediatric Endocrinology , Alder Hey Children\u2019s NHS Foundation Trust , Liverpool , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian","family":"Mulvey","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology , Alder Hey Children\u2019s NHS Foundation Trust , Liverpool , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruchi","family":"Nadar","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes , Birmingham Children\u2019s Hospital, Birmingham Women\u2019s, and Children\u2019s NHS Foundation Trust , Birmingham , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renuka P.","family":"Dias","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes , Birmingham Children\u2019s Hospital, Birmingham Women\u2019s, and Children\u2019s NHS Foundation Trust , Birmingham , UK"},{"name":"Institute of Metabolism and Systems Research, University of Birmingham College of Medical and Dental Sciences , Birmingham , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vrinda","family":"Saraff","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes , Birmingham Children\u2019s Hospital, Birmingham Women\u2019s, and Children\u2019s NHS Foundation Trust , Birmingham , UK"},{"name":"Institute of Applied Health Research, University of Birmingham , Birmingham , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Senthil","family":"Senniappan","sequence":"additional","affiliation":[{"name":"Department of Paediatric Endocrinology , Alder Hey Children\u2019s NHS Foundation Trust , Liverpool , UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,10,3]]},"reference":[{"key":"2023040100361109294_j_jpem-2022-0299_ref_001","doi-asserted-by":"crossref","unstructured":"Fraser, WD. Hyperparathyroidism. Lancet. 2009;374:145\u201358. https:\/\/doi.org\/10.1016\/s0140-6736(09)60507-9.","DOI":"10.1016\/S0140-6736(09)60507-9"},{"key":"2023040100361109294_j_jpem-2022-0299_ref_002","doi-asserted-by":"crossref","unstructured":"Kollars, J, Zarroug, AE, van Heerden, J, Lteif, A, Stavlo, P, Suarez, L, et al.. Primary hyperparathyroidism in pediatric patients. Pediatrics 2005;115:974\u201380. https:\/\/doi.org\/10.1542\/peds.2004-0804.","DOI":"10.1542\/peds.2004-0804"},{"key":"2023040100361109294_j_jpem-2022-0299_ref_003","unstructured":"Hyde, SMRT, Waguespack, SG, Perrier, ND, Hu, MI. CDC73-Related disorders: Seattle, WA. University of Washington Seattle; 2008:1993\u20132022 pp. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK3789\/ [Accessed 26 Apr 2018]."},{"key":"2023040100361109294_j_jpem-2022-0299_ref_004","doi-asserted-by":"crossref","unstructured":"Newey, PJ, Bowl, MR, Cranston, T, Thakker, RV. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat 2010;31:295\u2013307. https:\/\/doi.org\/10.1002\/humu.21188.","DOI":"10.1002\/humu.21188"},{"key":"2023040100361109294_j_jpem-2022-0299_ref_005","doi-asserted-by":"crossref","unstructured":"Sharretts, JM, Simonds, WF. Clinical and molecular genetics of parathyroid neoplasms. Best Pract Res Clin Endocrinol Metab 2010;24:491\u2013502. https:\/\/doi.org\/10.1016\/j.beem.2010.01.003.","DOI":"10.1016\/j.beem.2010.01.003"},{"key":"2023040100361109294_j_jpem-2022-0299_ref_006","doi-asserted-by":"crossref","unstructured":"van der Tuin, K, Tops, CMJ, Adank, MA, Cobben, JM, Hamdy, NAT, Jongmans, MC, et al.. CDC73-Related disorders: clinical manifestations and case detection in primary hyperparathyroidism. J Clin Endocrinol Metab 2017;102:4534\u201340. https:\/\/doi.org\/10.1210\/jc.2017-01249.","DOI":"10.1210\/jc.2017-01249"},{"key":"2023040100361109294_j_jpem-2022-0299_ref_007","doi-asserted-by":"crossref","unstructured":"Belcher, R, Metrailer, AM, Bodenner, DL, Stack, BCJr. Characterization of hyperparathyroidism in youth and adolescents: a literature review. Int J Pediatr Otorhinolaryngol 2013;77:318\u201322. https:\/\/doi.org\/10.1016\/j.ijporl.2012.12.008.","DOI":"10.1016\/j.ijporl.2012.12.008"},{"key":"2023040100361109294_j_jpem-2022-0299_ref_008","doi-asserted-by":"crossref","unstructured":"Pichardo-Lowden, AR, Manni, A, Saunders, BD, Baker, MJ. Familial hyperparathyroidism due to a germline mutation of the CDC73 gene: implications for management and age-appropriate testing of relatives at risk. Endocr Pract 2011;17:602\u20139. https:\/\/doi.org\/10.4158\/ep10337.ra.","DOI":"10.4158\/EP10337.RA"},{"key":"2023040100361109294_j_jpem-2022-0299_ref_009","doi-asserted-by":"crossref","unstructured":"Li, Y, Simonds, WF. Endocrine neoplasms in familial syndromes of hyperparathyroidism. Endocr Relat Cancer 2016;23:R229\u201347. https:\/\/doi.org\/10.1530\/erc-16-0059.","DOI":"10.1530\/ERC-16-0059"},{"key":"2023040100361109294_j_jpem-2022-0299_ref_010","doi-asserted-by":"crossref","unstructured":"Roizen, J, Levine, MA. A meta-analysis comparing the biochemistry of primary hyperparathyroidism in youths to the biochemistry of primary hyperparathyroidism in adults. 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