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This case\u2010note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH. XLH is associated with a large number of private mutations; 37 different mutations in the <jats:italic>PHEX<\/jats:italic> gene were identified in this cohort, 14 of which have not been previously reported. Orthopaedic involvement requiring surgical intervention (osteotomy) was frequent. Joint replacement and decompressive laminectomy were observed in those older than 40 years. Dental disease (63%), nephrocalcinosis (42%), and hearing impairment (14%) were also common. The rarity of the disease and the large number of variants make it difficult to discern specific genotype\u2010phenotype relationships. A new treatment, an anti\u2010FGF23 antibody, that may affect the natural history of the disease is currently being investigated in clinical trials.<\/jats:p>","DOI":"10.1007\/s10545-018-0147-6","type":"journal-article","created":{"date-parts":[[2018,2,19]],"date-time":"2018-02-19T12:33:24Z","timestamp":1519043604000},"page":"865-876","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":128,"title":["Outcome of adult patients with X\u2010linked hypophosphatemia caused by <i>PHEX<\/i> gene mutations"],"prefix":"10.1002","volume":"41","author":[{"given":"Douglas","family":"Chesher","sequence":"first","affiliation":[{"name":"Charles Dent Metabolic Unit National Hospital for Neurology and Neurosurgery Queen Square London WC1N 3BG UK"},{"name":"New South Wales Health Pathology Royal North Shore Hospital St Leonards NSW 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