{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:12:39Z","timestamp":1774645959878,"version":"3.50.1"},"reference-count":8,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,5,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0752_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Hypoparathyroidism is a rare disorder which is predominantly of idiopathic or genetic origin in children. The diagnosis is made from the biochemical measurement of parathyroid hormone (PTH), and the key findings include a low PTH in combination with hypocalcemia and hyperphosphatemia. However, the level of PTH encountered in patients with hypoparathyroidism may be dependent on the underlying genetic cause of the disorder as well as the biochemical assay used for assessment of PTH.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0752_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A three-year-old child with asymptomatic primary hypoparathyroidism was identified with a homozygous missense variant of <jats:italic>PTH<\/jats:italic>. A sudden unexpected high PTH result after a shift from 2nd to 3rd generation PTH assay in the routine laboratory provided a clue on the underlying genetic etiology.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0752_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Pathogenic variants of <jats:italic>PTH<\/jats:italic> as a cause of hypoparathyroidism are rarely described. In this case, the child was asymptomatic, and discordant PTH results were seen with different assays.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0752","type":"journal-article","created":{"date-parts":[[2022,2,4]],"date-time":"2022-02-04T17:34:55Z","timestamp":1643996095000},"page":"691-694","source":"Crossref","is-referenced-by-count":11,"title":["Homozygous missense variant of <i>PTH<\/i> (c.166C&gt;T, p.(Arg56Cys)) as the cause of familial isolated hypoparathyroidism in a three-year-old child"],"prefix":"10.1515","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6336-1936","authenticated-orcid":false,"given":"Stine Linding","family":"Andersen","sequence":"first","affiliation":[{"name":"Department of Clinical Biochemistry , Aalborg University Hospital , Aalborg , Denmark"},{"name":"Department of Clinical Medicine , Aalborg University , Aalborg , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anja Lisbeth","family":"Frederiksen","sequence":"additional","affiliation":[{"name":"Department of Clinical Medicine , Aalborg University , Aalborg , Denmark"},{"name":"Department of Clinical Genetics , Aalborg University Hospital , Aalborg , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Astrid Bruun","family":"Rasmussen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Aalborg University Hospital , Aalborg , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mette","family":"Madsen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Aalborg University Hospital , Aalborg , Denmark"},{"name":"Steno Diabetes Center North Jutland , Aalborg University Hospital , Aalborg , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann-Margrethe R\u00f8nholt","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Aalborg University Hospital , Aalborg , Denmark"},{"name":"Steno Diabetes Center North Jutland , Aalborg University Hospital , Aalborg , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,2,4]]},"reference":[{"key":"2023033121124497038_j_jpem-2021-0752_ref_001","doi-asserted-by":"crossref","unstructured":"Clarke, BL, Brown, EM, Collins, MT, J\u00fcppner, H, Lakatos, P, Levine, MA, et al.. Epidemiology and diagnosis of hypoparathyroidism. J Clin Endocrinol Metab 2016;101:2284\u201399. https:\/\/doi.org\/10.1210\/jc.2015-3908.","DOI":"10.1210\/jc.2015-3908"},{"key":"2023033121124497038_j_jpem-2021-0752_ref_002","doi-asserted-by":"crossref","unstructured":"Underbjerg, L, Sikjaer, T, Mosekilde, L, Rejnmark, L. The epidemiology of nonsurgical hypoparathyroidism in Denmark: a nationwide case finding study. J Bone Miner Res 2015;30:1738\u201344. https:\/\/doi.org\/10.1002\/jbmr.2501.","DOI":"10.1002\/jbmr.2501"},{"key":"2023033121124497038_j_jpem-2021-0752_ref_003","doi-asserted-by":"crossref","unstructured":"Kim, JH, Shin, YL, Yang, S, Cheon, CK, Cho, JH, Lee, BH, et al.. Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism. Clin Endocrinol 2015;83:790\u20136. https:\/\/doi.org\/10.1111\/cen.12944.","DOI":"10.1111\/cen.12944"},{"key":"2023033121124497038_j_jpem-2021-0752_ref_004","doi-asserted-by":"crossref","unstructured":"Lee, JH, Davaatseren, M, Lee, S. Rare PTH gene mutations causing parathyroid disorders: a review. Endocrinol Metab 2020;35:64\u201370. https:\/\/doi.org\/10.3803\/enm.2020.35.1.64.","DOI":"10.3803\/EnM.2020.35.1.64"},{"key":"2023033121124497038_j_jpem-2021-0752_ref_005","doi-asserted-by":"crossref","unstructured":"Cavalier, E, Vasikaran, S, Bhattoa, HP, Heijboer, AC, Makris, K, Ulmer, CZ. The path to the standardization of PTH: is this a realistic possibility? A position paper of the IFCC C-BM. Clin Chim Acta 2021;515:44\u201351. https:\/\/doi.org\/10.1016\/j.cca.2020.12.022.","DOI":"10.1016\/j.cca.2020.12.022"},{"key":"2023033121124497038_j_jpem-2021-0752_ref_006","doi-asserted-by":"crossref","unstructured":"Dupuy, AM, Bargnoux, AS, Morena, M, Lauret, E, Souberbielle, JC, Cavalier, E, et al.. Moving from the second to the third generation Roche PTH assays: what are the consequences for clinical practice? Clin Chem Lab Med 2019;57:244\u20139. https:\/\/doi.org\/10.1515\/cclm-2018-0300.","DOI":"10.1515\/cclm-2018-0300"},{"key":"2023033121124497038_j_jpem-2021-0752_ref_007","doi-asserted-by":"crossref","unstructured":"Lee, S, Mannstadt, M, Guo, J, Kim, SM, Yi, H-S, Khatri, A, et al.. A homozygous [Cys25]PTH(1-84) mutation that impairs PTH\/PTHrP receptor activation defines a novel form of hypoparathyroidism. J Bone Miner Res 2015;30:1803\u201313. https:\/\/doi.org\/10.1002\/jbmr.2532.","DOI":"10.1002\/jbmr.2532"},{"key":"2023033121124497038_j_jpem-2021-0752_ref_008","doi-asserted-by":"crossref","unstructured":"J\u00fcppner, H. Molecular definition of pseudohypoparathyroidism variants. J Clin Endocrinol Metab 2021;106:1541\u201352.","DOI":"10.1210\/clinem\/dgab060"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0752\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0752\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,1]],"date-time":"2023-04-01T10:50:29Z","timestamp":1680346229000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0752\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,4]]},"references-count":8,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2022,4,12]]},"published-print":{"date-parts":[[2022,5,25]]}},"alternative-id":["10.1515\/jpem-2021-0752"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2021-0752","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,4]]}}}