{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:43:39Z","timestamp":1787237019221,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Inactivating pathogenic variants (PVs) in\n                      <jats:italic>CYP24A1<\/jats:italic>\n                      (MIM*126065), which encodes the enzyme vitamin D\u201024\u2010hydroxylase, were initially identified in patients with infantile hypercalcemia (IH). Although\n                      <jats:italic>CYP24A1<\/jats:italic>\n                      PVs were originally associated with a recessive inheritance pattern, it is now understood that heterozygous (monoallelic) variants may also lead to milder phenotypes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Subjects and Methods<\/jats:title>\n                    <jats:p>\n                      Eight patients from six families, who presented with hypercalcemia, normal or elevated 25\u2010hydroxyvitamin D (25(OH)D\n                      <jats:sub>3<\/jats:sub>\n                      ), suppressed or low\u2010normal parathyroid hormone (PTH), and hypercalciuria and\/or nephrocalcinosis were included in the study.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Eight patients (five females) were diagnosed with IH based on clinical and laboratory assessment. The median age at presentation was 9.1 months (range: 5.0\u201044.4 months). The most common reason for referral was vomiting, reported in 50% of patients. Four patients (50%) were born to consanguineous parents. The mean serum calcium 3.6\u2009\u00b1\u20090.7\u2009mmol\/L (median 3.5; range 2.8\u20134.6) and 25(OH)D\n                      <jats:sub>3<\/jats:sub>\n                      970.7\u2009\u00b1\u2009880.5 nmol\/L (median 845.4; range 89.9\u20132069) levels were elevated. Data on 1,25(OH)\u2082D\u2083 levels were available for three patients; two patients with biallelic PVs exhibited elevated concentrations, whereas the monoallelic patient showed a normal level. Hypercalciuria and\/or nephrocalcinosis were present in 87.5% of the patients. Eight distinct\n                      <jats:italic>CYP24A1<\/jats:italic>\n                      PVs were identified in eight patients. Of these, two patients were homozygous, four were compound heterozygous and two were heterozygous for the respective variants. We detected mild hypercalcemia and\/or nephrocalcinosis\/nephrolithiasis in 40% of monoallelic parents.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Monoallelic or biallelic PVs in the\n                      <jats:italic>CYP24A1<\/jats:italic>\n                      gene play a significant role in the aetiology of hypercalcemia and\/or nephrocalcinosis\/nephrolithiasis. Early genetic diagnosis is essential for guiding clinical management, particularly to avoid inappropriate vitamin D supplementation and to minimize the risk of long\u2010term renal complications.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/cen.70064","type":"journal-article","created":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T05:26:10Z","timestamp":1764653170000},"page":"222-230","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into\n                    <i>CYP24A1<\/i>\n                    Variants"],"prefix":"10.1111","volume":"104","author":[{"given":"Mehmet","family":"Eltan","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes Marmara University School of Medicine Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ceren","family":"Alavanda","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Marmara University School of Medicine Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0130lknur","family":"Kurt","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes Marmara University School of Medicine Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zehra","family":"Yavas Abali","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes Marmara University School of Medicine Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saygin","family":"Abali","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Acibadem Mehmet Ali Aydinlar University, School of Medicine Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didem","family":"Helvacioglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes Marmara University School of Medicine Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2658-6866","authenticated-orcid":false,"given":"Tulay","family":"Guran","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes Marmara University School of Medicine Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6584-9043","authenticated-orcid":false,"given":"Abdullah","family":"Bereket","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes Marmara University School of Medicine Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pinar","family":"Ata","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Marmara University School of Medicine Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5172-5402","authenticated-orcid":false,"given":"Serap","family":"Turan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetes Marmara University School of Medicine Istanbul Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,12,1]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2009.11.057"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.abb.2011.11.003"},{"issue":"149","key":"e_1_2_14_4_1","first-page":"10","article-title":"Association. 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