{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T23:59:40Z","timestamp":1779235180726,"version":"3.51.4"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Familial hypocalciuric hypercalcemia (FHH) is a lifelong, benign, inherited condition caused by inactivating mutations in the calcium-sensing receptor (<jats:italic>CASR<\/jats:italic>) gene. Both FHH and primary hyperparathyroidism (PHPT) are characterized by elevated P-calcium, normal or elevated plasma-parathyroid hormone (P-PTH), and typically normal renal function. In PHPT, vitamin D metabolism is typically characterized by low plasma levels of 25-hydroxyvitamin D (25OHD), and high plasma levels of 1,25-dihydroxyvitamin D (1,25(OH)<jats:sub>2<\/jats:sub>D). In FHH, the vitamin D metabolism is not very well known.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To compare and evaluate plasma 25OHD, 1,25(OH)<jats:sub>2<\/jats:sub>D, and PTH in FHH and PHPT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Cross-sectional study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials<\/jats:title><jats:p>About 66 FHH patients with mutations in the <jats:italic>CASR<\/jats:italic> gene, 147 patients with surgically verified PHPT, and 46 controls matched to FHH patients according to age (\u00b15 years), sex, and season. All patients had a P-creatinine &lt;140\u200a\u03bcmol\/l.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We measured P-calcium, P-Ca<jats:sup>2<\/jats:sup><jats:sup>+<\/jats:sup>, P-albumin, P-creatinine, P-phosphate, P-magnesium, and P-PTH by standard laboratory methods. P-25OHD and P-1,25(OH)<jats:sub>2<\/jats:sub>D were measured by RIA or enzyme immunoassay. In FHH, all protein-coding exons in the <jats:italic>CASR<\/jats:italic> gene were sequenced and aligned to GenBank reference sequence <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"gen\" xlink:href=\"NM_000388.2\" xlink:type=\"simple\"\/>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>PHPT patients had higher body mass index (2<jats:italic>p<\/jats:italic>&lt;0.01), together with higher P-PTH (2<jats:italic>p<\/jats:italic>&lt;0.01) and P-1,25(OH)<jats:sub>2<\/jats:sub>D (2<jats:italic>p<\/jats:italic>&lt;0.01) compared with FHH patients. The groups had similar levels of P-Ca<jats:sup>2<\/jats:sup><jats:sup>+<\/jats:sup> and of P-25OHD. The phenotypic expression of the <jats:italic>CASR<\/jats:italic> mutations (as determined by the degree of hypercalcemia) did not influence the levels of P-1,25(OH)<jats:sub>2<\/jats:sub>D.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Even though P-calcium and P-25OHD were comparable, P-1,25(OH)<jats:sub>2<\/jats:sub>D and P-PTH differed between FHH and PHPT.<\/jats:p><\/jats:sec>","DOI":"10.1530\/eje-08-0440","type":"journal-article","created":{"date-parts":[[2008,9,12]],"date-time":"2008-09-12T00:45:34Z","timestamp":1221180334000},"page":"719-727","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":44,"title":["Plasma 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism"],"prefix":"10.1093","volume":"159","author":[{"given":"Signe Engkj\u00e6r","family":"Christensen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter H","family":"Nissen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Vestergaard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lene","family":"Heickendorff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars","family":"Rejnmark","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim","family":"Brixen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leif","family":"Mosekilde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/159\/6\/719.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/159\/6\/719.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:22:17Z","timestamp":1676391737000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/159\/6\/719\/6676053"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12]]},"references-count":0,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.1530\/eje-08-0440","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12]]}}}