{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,16]],"date-time":"2025-11-16T13:44:44Z","timestamp":1763300684624,"version":"3.45.0"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:00:00Z","timestamp":1759795200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100016348","name":"Kyowa Kirin","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016348","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013220","name":"Ultragenyx Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013220","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>X-linked hypophosphatemia (XLH) is a phosphate-wasting disorder mediated by increased fibroblast growth factor 23 (FGF23) activity. Typical clinical features are skeletal deformities, muscle weakness, stiffness, and impaired physical function. Using real-world data from the XLH Disease Monitoring Program (XLH-DMP) and the International XLH Registry, this study sought to determine whether the age at which XLH is diagnosed differs between children with and without a family history of the disease. In both real-world studies, children with a family history of XLH were diagnosed at a younger age than those without a family history (XLH-DMP [n\u2009=\u2009347]: mean age at diagnosis 1.6 [standard error (SE) 0.2] vs 2.7 [SE 0.2] years [p\u2009&amp;lt;\u2009.001]; International XLH Registry [n\u2009=\u2009360]: mean age at diagnosis 1.8 [SE 0.2] vs 4.1 [SE 0.3] years [p\u2009&amp;lt;\u2009.001]). After controlling for sex, race, ethnicity, and country of residence (Cox proportional hazards model), children with a family history of XLH received a diagnosis of XLH at a younger age than those without a family history (XLH-DMP: hazard ratio 1.69, 95% confidence interval [CI] 1.33-2.16; International XLH Registry: hazard ratio 2.47, 95% CI 1.88-3.24). This study demonstrates that children without a family history of XLH are diagnosed at a significantly older age than those from families known to be affected, and that diagnosis may also be delayed despite a family history of XLH. A greater awareness of XLH and its early symptoms among pediatric healthcare professionals is required to avoid delays in diagnosis and treatment initiation.<\/jats:p>","DOI":"10.1093\/jbmrpl\/ziaf158","type":"journal-article","created":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T11:47:04Z","timestamp":1759837624000},"source":"Crossref","is-referenced-by-count":0,"title":["Delayed diagnosis of X-linked hypophosphatemia in the absence of family history: a global unmet need"],"prefix":"10.1093","volume":"9","author":[{"given":"Suma","family":"Uday","sequence":"first","affiliation":[{"name":"Birmingham Women\u2019s and Children\u2019s NHS Foundation Trust , Department of Endocrinology, Birmingham , B4 6NH,","place":["United Kingdom"]},{"name":"Department of Metabolism and Systems Science, University of Birmingham , Birmingham ,","place":["B15 2TT, United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M Zulf","family":"Mughal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Al Jalila Children\u2019s Specialty Hospital, Al Jaddaf , Dubai , 7662,","place":["UAE"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamilton","family":"Cassinelli","sequence":"additional","affiliation":[{"name":"Division de Endocrinologia, Hospital de Ni\u00f1os , C1425 Buenos Aires ,","place":["Argentina"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5936-3146","authenticated-orcid":false,"given":"Pablo","family":"Florenzano","sequence":"additional","affiliation":[{"name":"Departamento Endocrinolog\u00eda, Escuela de Medicina, Pontificia Universidad Cat\u00f3lica de Chile ,","place":["8331150 Santiago, Chile"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7284-3467","authenticated-orcid":false,"given":"Erik A","family":"Imel","sequence":"additional","affiliation":[{"name":"Departments of Medicine and Pediatrics, Indiana University School of Medicine , Indianapolis , Indiana 46202-3082,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4189-6718","authenticated-orcid":false,"given":"Jill","family":"Simmons","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Endocrinology and Diabetes, Vanderbilt University School of Medicine, Vanderbilt University , Nashville, Tennessee 37232 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1557-9185","authenticated-orcid":false,"given":"Leanne M","family":"Ward","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, University of Ottawa , Ottawa, Ontario , K1H 8M5,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shubham","family":"Tewari","sequence":"additional","affiliation":[{"name":"KMK Consulting Inc. , Morristown, New Jersey 07950 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osman","family":"Ci\u011fero\u011flu","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc. , Novato, California 94949 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0779-9720","authenticated-orcid":false,"given":"Zhiyi","family":"Li","sequence":"additional","affiliation":[{"name":"Kyowa Kirin , Princeton, New Jersey 08540 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3938-0920","authenticated-orcid":false,"given":"Ben","family":"Johnson","sequence":"additional","affiliation":[{"name":"Kyowa Kirin , Marlow 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