{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T04:47:36Z","timestamp":1788238056376,"version":"build-2803163510"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T00:00:00Z","timestamp":1741564800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Fibrous dysplasia\/McCune\u2013Albright syndrome (FD\/MAS) is a rare condition caused by a mutation in the GNAS locus. Apart from endocrinopathies, some cases are characterized by excessive fibroblast growth factor 23 (FGF23) production from abnormal fibro-osseous tissue in FD lesions, resulting in increased renal phosphate excretion. We present a girl with FD\/MAS and severe skeletal burden, evidenced by the presence of polyostotic fibrous dysplasia, which was complicated with bone fractures. She also had hyperthyroidism and GnRH-independent precocious puberty. She received zoledronic acid infusions in preparation for hip surgery. Despite optimal conventional management with oral phosphate and alphacalcidol, which was poorly tolerated, she presented persistent hypophosphatemia. To control hypophosphatemia and its deleterious effects on bone health, treatment with burosumab off-label at a dose of 0.66\u00a0mg\/kg (20\u00a0mg) every 2\u00a0wk was initiated. Serum phosphate levels normalized within 2\u00a0wk of treatment. Laboratory results showed improvement in serum alkaline phosphatase (ALP) and PTH levels. After the second injection of burosumab, phosphate and PTH rose above the normal range with normal vitamin D levels; therefore, the interval between doses was increased to 3\u00a0wk, and calcium 500\u00a0mg daily was added. However, phosphate levels dropped again below normal range, so she had to return to 2-weekly injections of 20\u00a0mg. After 11\u00a0mo on burosumab, she remains with high normal phosphate levels and normal PTH and ALP values. Burosumab is well tolerated, with no adverse events to date. Burosumab is a human monoclonal antibody against FGF23 that reduces the risk of developing FGF23-mediated hypophosphatemia and its associated complications. Burosumab should be considered as an effective and safe alternative strategy for FGF23-mediated hypophosphatemia in FD\/MAS for those who either cannot tolerate or do not respond to conventional therapy. To our knowledge, this is the fourth published case worldwide describing successful treatment with burosumab in FD\/MAS.<\/jats:p>","DOI":"10.1093\/jbmrpl\/ziaf042","type":"journal-article","created":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T19:45:11Z","timestamp":1741635911000},"source":"Crossref","is-referenced-by-count":5,"title":["Burosumab treatment of a child with McCune\u2013Albright syndrome\/polyostotic fibrous dysplasia: challenges and benefits"],"prefix":"10.1093","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0826-1523","authenticated-orcid":false,"given":"Sophia D","family":"Sakka","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Metabolism and Diabetes and Aghia Sophia Children\u2019s Hospital Endo-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, \u201cAghia Sophia\u201d Children\u2019s Hospital , Athens 11527,","place":["Greece"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danai","family":"Georgakopoulou","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Metabolism and Diabetes and Aghia Sophia Children\u2019s Hospital Endo-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, \u201cAghia Sophia\u201d Children\u2019s Hospital , Athens 11527,","place":["Greece"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Artemis","family":"Doulgeraki","sequence":"additional","affiliation":[{"name":"Department of Bone and Mineral Metabolism, Institute of Child Health , Athens 11527,","place":["Greece"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas H","family":"Krieg","sequence":"additional","affiliation":[{"name":"Department of Hip, Deformity, Tumor and Infection, Bone- and Soft-Tissue Tumor Center University of Basel (KWUB) , Basel 4031,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Anastasopoulos","sequence":"additional","affiliation":[{"name":"Second Department of Orthopaedics, \u201cAghia Sophia\u201d Children's Hospital , Athens 11527,","place":["Greece"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabor","family":"Szinnai","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetology, University Children\u2019s Hospital Basel, University of Basel , Basel 4031,","place":["Switzerland"]},{"name":"Department of Clinical Research, University Hospital Basel, University of Basel , Basel 4031,","place":["Switzerland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Kanaka-Gantenbein","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Metabolism and Diabetes and Aghia Sophia Children\u2019s Hospital Endo-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, \u201cAghia Sophia\u201d Children\u2019s Hospital , Athens 11527,","place":["Greece"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,3,10]]},"reference":[{"issue":"24","key":"2025042806561520500_ref1","doi-asserted-by":"publisher","first-page":"1688","DOI":"10.1056\/NEJM199112123252403","article-title":"Activating mutations of the stimulatory G protein in the McCune-Albright syndrome","volume":"325","author":"Weinstein","year":"1991","journal-title":"N Engl J Med"},{"issue":"2","key":"2025042806561520500_ref2","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1210\/endrev\/bnz011","article-title":"Fibrous dysplasia\/McCune-Albright syndrome: a rare, mosaic disease of Galpha s activation","volume":"41","author":"Boyce","year":"2020","journal-title":"Endocr 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