{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T18:30:31Z","timestamp":1755801031700,"version":"3.44.0"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0569_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Neonatal severe hyperparathyroidism (NSHPT) is a rare condition characterized by inactivating mutations in the calcium-sensing receptor (<jats:italic>CaSR<\/jats:italic>) gene, leading to significant hypercalcemia and related complications.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0569_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We present a case of a six-day-old male infant with weakness, jaundice, and hypotonia, later diagnosed with NSHPT due to a known homozygous <jats:italic>CaSR<\/jats:italic> mutation (c.242T&gt;A; p.I81K). Initial laboratory findings revealed markedly elevated serum calcium levels and high parathyroid hormone levels which were compatible with primary hyperparathyroidism. After initial management, bisphosphonates were administered, resulting in the patient remaining normocalcemic for 11\u00a0months, although hyperparathyroidism persisted. Then, due to the ongoing hyperparathyroidism, cinacalcet was added and continued for nine months. Finally, a total parathyroidectomy was performed. Postoperatively, the patient developed hypoparathyroidism, necessitating long-term supplementation with calcium and calcitriol. By the last follow-up at 3 years, the patient exhibited normal growth parameters and no neurodevelopmental deficits.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0569_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This case underscores the importance of early diagnosis and intervention in NSHPT and highlights the critical role of medical treatment, surgical management and\u00a0long-term follow-up in optimising patient outcomes. Continued research is essential to enhance understanding and treatment strategies for NSHPT.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0569","type":"journal-article","created":{"date-parts":[[2025,1,22]],"date-time":"2025-01-22T04:50:47Z","timestamp":1737521447000},"page":"533-538","source":"Crossref","is-referenced-by-count":0,"title":["Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K)"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0605-3229","authenticated-orcid":false,"given":"Zeynep","family":"Donbaloglu","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , Akdeniz University Hospital , Antalya , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1014-5831","authenticated-orcid":false,"given":"Merve","family":"Gullu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Antalya Training and Research Hospital, University of Health Sciences , Antalya , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2867-3851","authenticated-orcid":false,"given":"Suat","family":"Tekin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Antalya Training and Research Hospital, University of Health Sciences , Antalya , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7003-0876","authenticated-orcid":false,"given":"Gungor","family":"Karaguzel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery , Akdeniz University Hospital , Antalya , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3550-1425","authenticated-orcid":false,"given":"Mesut","family":"Parlak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Akdeniz University Hospital , Antalya , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7637-9630","authenticated-orcid":false,"given":"Hale","family":"Tuhan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Akdeniz University Hospital , Antalya , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7472-5712","authenticated-orcid":false,"given":"Doga","family":"Turkkahraman","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Antalya Training and Research Hospital, University of Health Sciences , Antalya , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,1,23]]},"reference":[{"key":"2025082013043676431_j_jpem-2024-0569_ref_001","doi-asserted-by":"crossref","unstructured":"Gorvin, CM. Genetic causes of neonatal and infantile hypercalcaemia. Pediatr Nephrol 2022;37:289\u2013301. https:\/\/doi.org\/10.1007\/s00467-021-05082-z.","DOI":"10.1007\/s00467-021-05082-z"},{"key":"2025082013043676431_j_jpem-2024-0569_ref_002","doi-asserted-by":"crossref","unstructured":"Pollak, MR, Brown, EM, Chou, YH, Hebert, SC, Marx, SJ, Steinmann, B, et al.. Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993;75:1297\u2013303. https:\/\/doi.org\/10.1016\/0092-8674(93)90617-y.","DOI":"10.1016\/0092-8674(93)90617-Y"},{"key":"2025082013043676431_j_jpem-2024-0569_ref_003","doi-asserted-by":"crossref","unstructured":"Sun, X, Huang, L, Wu, J, Tao, Y, Yang, F. Novel homozygous inactivating mutation of the calcium-sensing receptor gene in neonatal severe hyperparathyroidism responding to cinacalcet therapy: a case report and literature review. 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