{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T04:11:39Z","timestamp":1792987899858,"version":"4.5.0"},"reference-count":10,"publisher":"The Endocrine Society","issue":"4","license":[{"start":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T00:00:00Z","timestamp":1691539200000},"content-version":"vor","delay-in-days":39,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Pathogenic variants of CYP24A1 are associated with hypercalcemia due to disruptions in the ability of 24-hydroxylase to break down 1,25-dihydroxyvitamin D (1,25-DHVD). A case involving a heterozygous pathogenic variant of CYP24A1 and primary hyperparathyroidism leading to severe hypercalcemia has not been previously reported. A 23-year-old woman presented with fatigue and was found to be hypercalcemic at 13.8\u2005mg\/dL [reference range, 8.4-10.2\u2005pg\/mL]. Her parathyroid hormone (PTH) was 62\u2005pg\/mL [reference range, 19-88\u2005pg\/mL] and 1,25-DHVD was elevated to 242.7\u2005pg\/mL [reference range, 18-72\u2005pg\/mL]. Other laboratory workup was unrevealing. She had a bone scan, whole body CT scan, and thyroid ultrasound that were normal. Her 25-hydroxy-vitamin D to 24,25-dihydroxy-vitamin D ratio was elevated at 25.18 (normal, &amp;lt;\u00a025). Because of concern for primary hyperparathyroidism, she was referred to an endocrine surgeon and underwent a parathyroidectomy with the removal of a 3.5-gram adenoma. Pathology showed a parafibromin-deficient parathyroid neoplasm. Genetic testing demonstrated a heterozygous pathogenic variant in CYP24A1. Three weeks after surgery, PTH was 14\u2005pg\/mL (1.48\u2005pmol\/L), calcium and 1,25-DHVD normalized. In summary, we report a case where a patient with severe symptomatic hypercalcemia was found to have primary hyperparathyroidism exacerbated by an underlying heterozygous pathogenic variant in CYP24A1.<\/jats:p>","DOI":"10.1210\/jcemcr\/luad071","type":"journal-article","created":{"date-parts":[[2023,8,9]],"date-time":"2023-08-09T11:44:36Z","timestamp":1691581476000},"source":"Crossref","is-referenced-by-count":3,"title":["Severe Hypercalcemia Due to Primary Hyperparathyroidism and Heterozygous Pathogenic Variant of <i>CYP24A1<\/i>"],"prefix":"10.1210","volume":"1","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9314-9258","authenticated-orcid":false,"given":"Jannel","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Diabetes, and Metabolism, University of Chicago Medicine , Chicago, IL 60637 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Angelos","sequence":"additional","affiliation":[{"name":"Department of Endocrine Surgery, University of Chicago Medicine , Chicago, IL 60637 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maan","family":"Barhoum","sequence":"additional","affiliation":[{"name":"Advanced Diabetes & Endocrine Center , Libertyville, IL 60048 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajesh","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Diabetes, and Metabolism, University of Chicago Medicine , Chicago, IL 60637 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2023,8,9]]},"reference":[{"issue":"5","key":"2023101314013146400_luad071-B1","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1210\/er.2016-1070","article-title":"Vitamin D-mediated hypercalcemia: mechanisms, diagnosis, and treatment","volume":"37","author":"Tebben","year":"2016","journal-title":"Endocr 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