{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T13:40:00Z","timestamp":1791380400003,"version":"4.3.3"},"reference-count":27,"publisher":"The Endocrine Society","issue":"6","license":[{"start":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T00:00:00Z","timestamp":1704326400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Fibrous dysplasia\/McCune-Albright syndrome (FD\/MAS) is a rare genetic disorder. Incidence and prevalence are not well-studied. Epidemiological research is complicated by the rarity of FD\/MAS, absence of registries, heterogeneous presentation, and possibly asymptomatic phenotype. FD\/MAS may present with FGF23-mediated hypophosphatemia, of which the epidemiology is also unclear.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>Evaluate incidence and prevalence of FD\/MAS and FD\/MAS-related hypophosphatemia.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>This cohort study based on the nationwide Danish National Patient Registry from 1995-2018, included patients identified by ICD-10 codes M85.0 (monostotic FD [MFD]) and Q78.1 (polyostotic FD [PFD]\/MAS). Incidence rates and prevalence were calculated and stratified by sex, age, calendar period, and diagnosis code. Cases were screened for FD-associated hypophosphatemia by diagnosis code E.83 (disorder of mineral metabolism) and dispatched vitamin D analogues.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A total of 408 patients were identified, 269 with MFD (66%), 139 with PFD\/MAS (34%), comparable between sexes. Incidence of FD\/MAS demonstrated increasing secular trend with a rate of 3.6 per 1 000 000 person-years (95% CI: 2.9, 4.5) in 2015-2018. Incidence peaked between age 11 and 20. Prevalence of FD\/MAS increased over time to 61.0 (95% CI: 54.6, 67.4) per 1 000 000 persons in 2018. The incidence rate of MFD was 1.5-fold that of PFD\/MAS in the first decade, rising to 2.5-fold in the last decade. No FD\/MAS cases were registered with diagnosis code or treatment for hypophosphatemia.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>FD\/MAS is rare, diagnosis peaks during adolescence without sex predominance, and MFD is most prevalent. Hypophosphatemia may be underdiagnosed and undertreated, or it may be underregistered, comparing this study to literature.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgad744","type":"journal-article","created":{"date-parts":[[2024,1,3]],"date-time":"2024-01-03T13:51:46Z","timestamp":1704289906000},"page":"1423-1432","source":"Crossref","is-referenced-by-count":34,"title":["Incidence and Prevalence of Fibrous Dysplasia\/McCune-Albright Syndrome: A Nationwide Registry-Based Study in Denmark"],"prefix":"10.1210","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6258-2531","authenticated-orcid":false,"given":"Maartje E","family":"Meier","sequence":"first","affiliation":[{"name":"Department of Orthopedic Surgery, Leiden University Medical Center , 2333 ZA Leiden , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emese","family":"V\u00e1g\u00f3","sequence":"additional","affiliation":[{"name":"Department of Clinical Epidemiology, Aarhus University , 8200 Aarhus N , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Abrahamsen","sequence":"additional","affiliation":[{"name":"OPEN Patient Data Explorative Network, University of Southern Denmark , 5000 Odense C , Denmark"},{"name":"Department of Medicine, Holbaek Hospital , 4300 Holbaek , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1333-7580","authenticated-orcid":false,"given":"Olaf M","family":"Dekkers","sequence":"additional","affiliation":[{"name":"Department of Clinical Epidemiology, Aarhus University , 8200 Aarhus N , Denmark"},{"name":"Department of Clinical Epidemiology, Leiden University Medical Center , 2333 ZA Leiden , The Netherlands"},{"name":"Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center , 2333 ZA Leiden , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erzs\u00e9bet","family":"Horv\u00e1th-Puh\u00f3","sequence":"additional","affiliation":[{"name":"Department of Clinical Epidemiology, Aarhus University , 8200 Aarhus N , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Rejnmark","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Internal Medicine, Aarhus University Hospital , 8200 Aarhus N , Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasha M","family":"Appelman-Dijkstra","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center , 2333 ZA Leiden , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2024,1,4]]},"reference":[{"issue":"2","key":"2024051707031934700_dgad744-B1","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1210\/endrev\/bnz011","article-title":"Fibrous dysplasia\/McCune-albright syndrome: a rare, mosaic disease of g\u03b1\u200as activation","volume":"41","author":"Boyce","year":"2019","journal-title":"Endocr Rev"},{"issue":"24","key":"2024051707031934700_dgad744-B2","doi-asserted-by":"crossref","first-page":"1688","DOI":"10.1056\/NEJM199112123252403","article-title":"Activating mutations of the stimulatory G protein in the McCune\u2013albright syndrome","volume":"325","author":"Weinstein","year":"1991","journal-title":"N Engl J Med"},{"issue":"1","key":"2024051707031934700_dgad744-B3","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1186\/s13023-019-1102-9","article-title":"Best practice management guidelines for fibrous dysplasia\/McCune-Albright syndrome: a consensus statement from the FD\/MAS international consortium","volume":"14","author":"Javaid","year":"2019","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"2024051707031934700_dgad744-B4","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1359\/jbmr.2001.16.5.806","article-title":"Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia","volume":"16","author":"Collins","year":"2001","journal-title":"J Bone Miner Res"},{"issue":"5","key":"2024051707031934700_dgad744-B5","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1172\/JCI18399","article-title":"FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting","volume":"112","author":"Riminucci","year":"2003","journal-title":"J Clin Invest"},{"issue":"12","key":"2024051707031934700_dgad744-B6","doi-asserted-by":"crossref","first-page":"2167","DOI":"10.1002\/jbmr.2894","article-title":"Prognostic factors from an epidemiologic evaluation of fibrous dysplasia of bone in a modern cohort: the FRANCEDYS study","volume":"31","author":"Benhamou","year":"2016","journal-title":"J Bone Miner Res"},{"issue":"4","key":"2024051707031934700_dgad744-B7","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1359\/JBMR.0301262","article-title":"Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome","volume":"19","author":"Leet","year":"2004","journal-title":"J Bone Miner Res"},{"key":"2024051707031934700_dgad744-B8","volume-title":"GeneReviews(\u00ae) [Internet]","author":"Boyce","year":"2015"},{"issue":"1","key":"2024051707031934700_dgad744-B9","doi-asserted-by":"crossref","first-page":"c17","DOI":"10.1159\/000286345","article-title":"Measures of disease frequency: prevalence and incidence","volume":"115","author":"Noordzij","year":"2010","journal-title":"Nephron Clin Pract"},{"key":"2024051707031934700_dgad744-B10","author":"Statistics Denmark"},{"key":"2024051707031934700_dgad744-B11","doi-asserted-by":"crossref","first-page":"563","DOI":"10.2147\/CLEP.S179083","article-title":"The Danish health care system and epidemiological research: from health care contacts to database records","volume":"11","author":"Schmidt","year":"2019","journal-title":"Clin Epidemiol"},{"key":"2024051707031934700_dgad744-B12","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1177\/1403494810394717","article-title":"The Danish national prescription registry","volume":"39","author":"Wallach Kildemoes","year":"2011","journal-title":"Scand J Public Health"},{"key":"2024051707031934700_dgad744-B13","doi-asserted-by":"crossref","first-page":"449","DOI":"10.2147\/CLEP.S91125","article-title":"The danish national patient registry: a review of content, data quality, and research potential","volume":"7","author":"Schmidt","year":"2015","journal-title":"Clin Epidemiol"},{"key":"2024051707031934700_dgad744-B14","article-title":"Data from: incidence and prevalence of fibrous dysplasia\/McCune-Albright syndrome\u2014a nationwide registry-based study in Denmark","author":"Meier","year":"2023","journal-title":"Gen Digital Reposit"},{"key":"2024051707031934700_dgad744-B15"},{"key":"2024051707031934700_dgad744-B16","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Florenzano","year":"2018"},{"issue":"2","key":"2024051707031934700_dgad744-B17","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1053\/berh.1999.0071","article-title":"Fibrous dysplasia of bone","volume":"14","author":"Chapurlat","year":"2000","journal-title":"Baillieres Best Pract Res Clin Rheumatol"},{"issue":"12","key":"2024051707031934700_dgad744-B18","doi-asserted-by":"crossref","first-page":"2159","DOI":"10.1002\/jbmr.2895","article-title":"Mortality and causes of death in patients with osteogenesis Imperfecta: a register-based nationwide cohort study","volume":"31","author":"Folkestad","year":"2016","journal-title":"J Bone Miner Res"},{"issue":"4","key":"2024051707031934700_dgad744-B19","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1111\/j.1399-0004.1989.tb03198.x","article-title":"Osteogenesis imperfecta: a genetic, radiological, and epidemiological study","volume":"36","author":"Andersen","year":"1989","journal-title":"Clin Genet"},{"issue":"3","key":"2024051707031934700_dgad744-B20","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1530\/EJE-08-0818","article-title":"Incidence and prevalence of nutritional and hereditary rickets in southern Denmark","volume":"160","author":"Beck-Nielsen","year":"2009","journal-title":"Eur J Endocrinol"},{"issue":"10","key":"2024051707031934700_dgad744-B21","doi-asserted-by":"crossref","first-page":"2297","DOI":"10.1002\/ajmg.a.61787","article-title":"Birth prevalence of achondroplasia: a systematic literature review and meta-analysis","volume":"182","author":"Foreman","year":"2020","journal-title":"American J Med Genet Part A"},{"issue":"3","key":"2024051707031934700_dgad744-B22","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1111\/j.1469-1809.2011.00642.x","article-title":"A molecular-based estimation of the prevalence of hypophosphatasia in the European population","volume":"75","author":"Mornet","year":"2011","journal-title":"Ann Hum Genet"},{"issue":"1","key":"2024051707031934700_dgad744-B23","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1186\/s13023-022-02588-z","article-title":"A multidisciplinary care pathway improves quality of life and pain in patients with fibrous dysplasia\/McCune-albright syndrome: a multicenter prospective observational study","volume":"17","author":"Meier","year":"2022","journal-title":"Orphanet J Rare Dis"},{"issue":"9","key":"2024051707031934700_dgad744-B24","doi-asserted-by":"crossref","first-page":"1468","DOI":"10.1359\/jbmr.070511","article-title":"Onset, progression, and plateau of skeletal lesions in fibrous dysplasia and the relationship to functional outcome","volume":"22","author":"Hart","year":"2007","journal-title":"J Bone Miner Res"},{"issue":"1","key":"2024051707031934700_dgad744-B25","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1097\/SCS.0000000000002830","article-title":"Prevalence of different forms and involved bones of craniofacial fibrous dysplasia","volume":"28","author":"Yang","year":"2017","journal-title":"J Craniofac Surg"},{"issue":"7","key":"2024051707031934700_dgad744-B26","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1002\/jbmr.4818","article-title":"Coxa vara deformity in fibrous dysplasia\/McCune-Albright syndrome: prevalence, natural history and risk factors: a two-center study","volume":"38","author":"Meier","year":"2023","journal-title":"J Bone Miner Res."},{"issue":"2","key":"2024051707031934700_dgad744-B27","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1002\/jbmr.4463","article-title":"Long bone fractures in fibrous dysplasia\/McCune-albright syndrome: prevalence, natural history, and risk factors","volume":"37","author":"Geels","year":"2022","journal-title":"J Bone Miner Res"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcem\/advance-article-pdf\/doi\/10.1210\/clinem\/dgad744\/55247706\/dgad744.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/109\/6\/1423\/57709005\/dgad744.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcem\/article-pdf\/109\/6\/1423\/57709005\/dgad744.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T07:04:28Z","timestamp":1715929468000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/109\/6\/1423\/7510564"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,4]]},"references-count":27,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,1,4]]},"published-print":{"date-parts":[[2024,5,17]]}},"URL":"https:\/\/doi.org\/10.1210\/clinem\/dgad744","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,6]]},"published":{"date-parts":[[2024,1,4]]}}}