{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T16:09:28Z","timestamp":1778602168118,"version":"3.51.4"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0367_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Parathyroid carcinoma is the rarest etiological cause of primary hyperparathyroidism and is exceedingly rare in the pediatric population. Clinical manifestations include severe hypercalcemia, pathological fractures, and bone pain. Diagnosis is typically established through surgical intervention and histopathological examination; however, genetic analyses can also support the diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0367_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 10-year-10-month-old female presented with fatigue, leg pain, and a pathological fracture in her left forearm. Laboratory tests revealed hypercalcemia, hypophosphatemic hypercalcemia, and hyperparathyroidism. Imaging studies identified a 17\u202fmm hypervascular hypoechoic lesion in the left paratracheal area. Surgical intervention included left inferior and superior parathyroidectomy and left thyroidectomy. Histopathology showed atypical parathyroid neoplasia and thyroid hyperplasia. Genetic testing revealed a pathogenic\n                      <jats:italic>CDC73<\/jats:italic>\n                      mutation (p.E48*, c.142G&gt;T). The patient is under regular follow-up for hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid carcinoma.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0367_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This case highlights the importance of early genetic testing in pediatric primary hyperparathyroidism (PHP), particularly for detecting\n                      <jats:italic>CDC73<\/jats:italic>\n                      gene mutations associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT). Early diagnosis allows for timely intervention, surgical planning, and long-term surveillance to manage potential complications such as parathyroid carcinoma and ossifying fibromas.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0367","type":"journal-article","created":{"date-parts":[[2025,8,23]],"date-time":"2025-08-23T05:57:40Z","timestamp":1755928660000},"page":"1356-1360","source":"Crossref","is-referenced-by-count":0,"title":["Atypical pediatric presentation of hyperparathyroidism:\n                    <i>CDC73<\/i>\n                    gene mutation and parathyroid carcinoma"],"prefix":"10.1515","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8385-4049","authenticated-orcid":false,"given":"Emel Hatun","family":"Ayta\u00e7 Kaplan","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology , Basaksehir Cam ve Sakura City Hospital , \u0130stanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1232-2475","authenticated-orcid":false,"given":"Mehmet","family":"\u00c7akmak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery , Ba\u015fak\u015fehir \u00c7am ve Sakura City Hospital , \u0130stanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3540-4772","authenticated-orcid":false,"given":"M. Banu","family":"Yilmaz \u00d6zg\u00fcven","sequence":"additional","affiliation":[{"name":"Department of Pathology , Ba\u015fak\u015fehir \u00c7am ve Sakura City Hospital , \u0130stanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-0592-9043","authenticated-orcid":false,"given":"\u015eeyma","family":"Tuna \u015eent\u00fcrk","sequence":"additional","affiliation":[{"name":"Department of Pathology , Ba\u015fak\u015fehir \u00c7am ve Sakura City Hospital , \u0130stanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9676-7086","authenticated-orcid":false,"given":"Hasan","family":"\u00d6nal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , \u0130stanbul Ba\u015fak\u015fehir \u00c7am ve Sakura \u015eehir Hastanesi , \u0130stanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7275-431X","authenticated-orcid":false,"given":"Serdar","family":"Bozlak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics , \u0130stanbul Ba\u015fak\u015fehir \u00c7am ve Sakura \u015eehir Hastanesi , \u0130stanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7335-1272","authenticated-orcid":false,"given":"Z\u00fcmr\u00fct","family":"Kocabey S\u00fct\u00e7\u00fc","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology , Basaksehir Cam ve Sakura City Hospital , \u0130stanbul , T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,8,25]]},"reference":[{"key":"2026051215122193234_j_jpem-2025-0367_ref_001","doi-asserted-by":"crossref","unstructured":"Roizen, J, Levine, MA. 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