{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:13:28Z","timestamp":1787022808465,"version":"build-2736575974"},"reference-count":0,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,12,1]]},"abstract":"\n Summary<\/jats:title>\n \n Hypoparathyroidism is characterized by low or inappropriately normal parathormone production, hypocalcemia and hyperphosphatemia. Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of hypoparathyroidism caused by heterozygous activating mutations in the calcium-sensing receptor (\n CASR<\/jats:italic>\n ) gene. Current treatments for ADH type 1 include supplementation with calcium and active vitamin D. We report a case of hypoparathyroidism in an adolescent affected by syncope without prodrome. The genetic testing revealed a variant in the\n CASR<\/jats:italic>\n gene. Due to standard therapy ineffectiveness, the patient was treated with recombinant human parathyroid hormone (1\u201334), magnesium aspartate and calcitriol. He remained asymptomatic and without neurological sequelae until adulthood. Early diagnosis and treatment are important to achieve clinical stability.\n <\/jats:p>\n <\/jats:sec>\n \n Learning points<\/jats:title>\n \n \n \n Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of hypoparathyroidism caused by heterozygous activating mutations in the calcium-sensing receptor (\n CASR<\/jats:italic>\n ) gene.\n <\/jats:p>\n <\/jats:list-item>\n \n \n The variant c.368T>C (p.Leu123Ser) in heterozygosity in the\n CASR<\/jats:italic>\n gene is likely pathogenic and suggests the diagnosis of ADH type 1.\n <\/jats:p>\n <\/jats:list-item>\n \n Teriparatide (recombinant human parathyroid hormone 1\u201334) may be a valid treatment option to achieve clinical stability for those individuals whose condition is poorly controlled by current standard therapy.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-21-0005","type":"journal-article","created":{"date-parts":[[2021,12,6]],"date-time":"2021-12-06T04:00:07Z","timestamp":1638763207000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":7,"title":["A variant in the CASR gene (c.368T>C) causing hypocalcemia refractory to standard medical therapy"],"prefix":"10.1530","volume":"2021","author":[{"given":"Diana","family":"Festas Silva","sequence":"first","affiliation":[{"name":"1Endocrinology, Diabetes and Metabolism Department, Coimbra Hospital and University Centre, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0499-9790","authenticated-orcid":true,"given":"Adriana","family":"De Sousa Lages","sequence":"additional","affiliation":[{"name":"2Faculty of Medicine of the University of Coimbra, Coimbra, Portugal"},{"name":"3Endocrinology Department, Braga Hospital, Braga, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana Serra","family":"Caetano","sequence":"additional","affiliation":[{"name":"4Pediatric Endocrinology, Diabetes and Growth Department, Coimbra Pediatric Hospital, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Cardoso","sequence":"additional","affiliation":[{"name":"4Pediatric Endocrinology, Diabetes and Growth Department, Coimbra Pediatric Hospital, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Dinis","sequence":"additional","affiliation":[{"name":"4Pediatric Endocrinology, Diabetes and Growth Department, Coimbra Pediatric Hospital, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonor","family":"Gomes","sequence":"additional","affiliation":[{"name":"1Endocrinology, Diabetes and Metabolism Department, Coimbra Hospital and University Centre, Coimbra, Portugal"},{"name":"2Faculty of Medicine of the University of Coimbra, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Paiva","sequence":"additional","affiliation":[{"name":"1Endocrinology, Diabetes and Metabolism Department, Coimbra Hospital and University Centre, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Mirante","sequence":"additional","affiliation":[{"name":"4Pediatric Endocrinology, Diabetes and Growth Department, Coimbra Pediatric Hospital, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","container-title":["Endocrinology, Diabetes & Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2021\/1\/EDM21-0005.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2021\/1\/EDM21-0005.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:47:35Z","timestamp":1784555255000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3777"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,1]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1530\/edm-21-0005","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,1]]}}}