{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T21:51:00Z","timestamp":1770069060059,"version":"3.49.0"},"reference-count":56,"publisher":"Georg Thieme Verlag KG","issue":"10","license":[{"start":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T00:00:00Z","timestamp":1696809600000},"content-version":"vor","delay-in-days":8,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Metab Res"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X-linked hypophosphatemia (XLH) associated with short stature during childhood\n                    are mostly referred to the hospital and diagnosed as vitamin D deficiency\n                    rickets and received vitamin D before adulthood. A case is presented with\n                    clinical features of hypophosphatemia from childhood who did not seek medical\n                    care for diagnosis and treatment, nor did his mother or two brothers, who have\n                    short statures, bone pain, and fractures. The patient was assessed for\n                    sociodemographic, hematological, and biochemical parameters together with a\n                    genetic assessment. A DEXA scan and X-ray were done to determine the\n                    abnormalities and deformities of joints and bones despite clinical examination\n                    by an expert physician. All imaging, laboratory parameters, and the genetic\n                    study confirmed the diagnosis of XLH. A detailed follow-up of his condition was\n                    performed after the use of phosphate tablets and other treatments. X-linked\n                    hypophosphatemia needs a good assessment, care, and follow up through a\n                    complementary medical team including several specialties. Phosphate tablets in\n                    adulthood significantly affects clinical and physical improvement and prevention\n                    of further skeletal abnormality and burden on daily activity. The patients\n                    should be maintained with an adequate dose of phosphate for better patient\n                    compliance. More awareness is needed in society and for health professionals\n                    when conducting medical checkups during the presence of stress fractures,\n                    frequent dental and gum problems, rickets, short stature, or abnormality in the\n                    skeleton or walking to think of secondary causes such as hypophosphatemia.\n                    Further investigations including a visit to a specialist is imperative to check\n                    for the primary cause of these disturbances.<\/jats:p>","DOI":"10.1055\/a-2159-8429","type":"journal-article","created":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T22:40:00Z","timestamp":1696891200000},"page":"653-664","source":"Crossref","is-referenced-by-count":2,"title":["X-Linked Familial Hypophosphatemia: A Case Report of 27-Year Old Male\n                    and Review of Literature"],"prefix":"10.1055","volume":"55","author":[{"given":"Shadan Jabbar","family":"Abdullah","sequence":"additional","affiliation":[{"name":"Endocrine Unit, Internal Medicine, Shar Hospital, Sulaymaniyah,\n                    Kurdistan region, Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taha Othman","family":"Mahwi","sequence":"additional","affiliation":[{"name":"Medicine, University of Sulaimani College of Medicine, Sulaymaniyah,\n                    Kurdistan region, Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Areewan","family":"Mohamad Salih Saeed","sequence":"additional","affiliation":[{"name":"Surgery, University of Sulaimani College of Medicine, Sulaymaniyah,\n                    Kurdistan region, Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6516-8611","authenticated-orcid":false,"given":"Darya Saeed","family":"Abdulateef","sequence":"additional","affiliation":[{"name":"Medical Education, University of Sulaimani College of Medicine,\n                    Sulaymaniyah, Kurdistan region, Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heshu Sulaiman","family":"Rahman","sequence":"additional","affiliation":[{"name":"Physiology, University of Sulaimani College of Medicine, Sulaymaniyah,\n                    Kurdistan region, Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaho Fatah","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Endocrine Unit, Internal Medicine, Shar Hospital, Sulaymaniyah,\n                    Kurdistan region, Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarkan Ahmed","family":"Abdulqader","sequence":"additional","affiliation":[{"name":"Orthopedic Surgery Unit, Shar Hospital, Sulaymaniyah, Kurdistan region,\n                    Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,10,9]]},"reference":[{"key":"ref1","first-page":"991","volume-title":"Parathyroid hormone, calcitonin, calcium and phosphate metabolism, vitamin D,\n                    bone, and teeth. 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hypophosphatemia: a new era in management","volume":"4","author":"K Dahir","year":"2020","journal-title":"J Endocr Soc"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1007\/s00431-007-0662-1","article-title":"What\u2019s new in hypophosphataemic rickets?","volume":"167","author":"J M Pettifor","year":"2008","journal-title":"Eur J Pediatr"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"7S","DOI":"10.1177\/0022034514529150","article-title":"Rare bone diseases and their dental, oral, and craniofacial manifestations","volume":"93","author":"B L Foster","year":"2014","journal-title":"J Dent Res"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1014-8","article-title":"FGF23 and its role in X-linked hypophosphatemia-related morbidity","volume":"14","author":"S S Beck-Nielsen","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1530\/EJE-15-0661","article-title":"Impaired quality of life in adults with X-linked hypophosphatemia and skeletal\n                    symptoms","volume":"174","author":"H Che","year":"2016","journal-title":"Eur J Endocrinol"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"154049","DOI":"10.1016\/j.metabol.2019.154049","article-title":"Management of X-linked hypophosphatemia in adults","volume":"103","author":"A L Lecoq","year":"2020","journal-title":"Metabolism"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1007\/s00467-011-2046-z","article-title":"Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of\n                    early treatment","volume":"27","author":"C Quinlan","year":"2012","journal-title":"Pediatr Nephrol"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/S2213-8587(18)30338-3","article-title":"Efficacy and safety of burosumab in children aged 1-4 years with X-linked\n                    hypophosphataemia: a multicentre, open-label, phase 2 trial","volume":"7","author":"M P Whyte","year":"2019","journal-title":"lancet Diabetes Endocrinol"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1530\/EJE-15-0515","article-title":"Hereditary hypophosphatemia in Norway: a retrospective population-based study of\n                    genotypes, phenotypes, and treatment complications","volume":"174","author":"S Rafaelsen","year":"2015","journal-title":"Eur J Endocrinol"},{"key":"ref26","first-page":"1","article-title":"Windswept lower limb deformities in patients with hypophosphataemic rickets","volume":"143","author":"A Al Kaissi","year":"2013","journal-title":"Swiss Med Wkly"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1159\/000334941","article-title":"Papilledema in the setting of x-linked hypophosphatemic rickets with\n                    craniosynostosis","volume":"2","author":"L R Dagi Glass","year":"2011","journal-title":"Case Rep Ophthalmol"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1210\/jendso\/bvaa151","article-title":"X-Linked Hypophosphatemia: a new era in management","volume":"4","author":"K Dahir","year":"2020","journal-title":"J Endocr Soc"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1007\/s00223-010-9373-0","article-title":"Phenotype presentation of hypophosphatemic rickets in adults","volume":"87","author":"S S Beck-Nielsen","year":"2010","journal-title":"Calcif Tissue Int"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"e1798","DOI":"10.1210\/clinem\/dgaa064","article-title":"Osteoarthritis, osteophytes, and enthesophytes affect biomechanical function in\n                    adults with X-linked hypophosphatemia","volume":"105","author":"A Steele","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"key":"ref31","first-page":"97","article-title":"Abnormalities in muscle density and muscle function in hypophosphatemic\n                    rickets","author":"L N Veilleux","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"3378","DOI":"10.1096\/fj.201600473R","article-title":"Hypophosphatemia promotes lower rates of muscle ATP synthesis","volume":"30","author":"D H Pesta","year":"2016","journal-title":"FASEB J"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/j.jbspin.2019.01.012","article-title":"X-linked hypophosphatemia: Management and treatment prospects","volume":"86","author":"A S Lambert","year":"2019","journal-title":"Joint Bone Spine"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1203\/01.PDR.0000169983.40758.7B","article-title":"A clinical and molecular genetic study of hypophosphatemic rickets in\n                    children","volume":"58","author":"H Cho","year":"2005","journal-title":"Pediatr Res"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/S0169-6009(08)80127-4","article-title":"X-Linked hypophosphatemic rickets: a disease often unknown to affected\n                    patients","volume":"24","author":"M J Econs","year":"1994","journal-title":"Bone Miner"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1016\/j.metabol.2019.03.009","article-title":"Diagnosis, treatment-monitoring and follow-up\n                    of children and adolescents with X-linked hypophosphatemia\n                    (XLH)","author":"A 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hypophosphatemic\n                    rickets","volume":"44","author":"T O Carpenter","year":"1997","journal-title":"Pediatr Clin North Am"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"366","DOI":"10.5603\/EP.a2021.0062","article-title":"Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation\n                    in children and adults","volume":"72","author":"N Tavana","year":"2021","journal-title":"Endokrynol Pol"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1016\/j.arcped.2021.09.005","article-title":"X-linked hypophosphatemia: The medical expert\u2019s challenges and the\n                    patient\u2019s concerns on their journey with the disease","volume":"28","author":"NA T Hamdy","year":"2021","journal-title":"Arch Pediatr"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1177\/0022034516677528","article-title":"Phosphate and Vitamin D Prevent Periodontitis in X-Linked 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Metab"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1530\/EJE-15-0515","article-title":"Hereditary hypophosphatemia in Norway: a retrospective population-based study of\n                    genotypes, phenotypes, and treatment complications","volume":"174","author":"S Rafaelsen","year":"2016","journal-title":"Eur J Endocrinol"},{"key":"ref48","first-page":"338","article-title":"Clinical evidence for the benefits of burosumab therapy for X-linked\n                    hypophosphatemia (XLH) and other conditions in adults and children","volume":"1","author":"M Misra","year":"2020","journal-title":"Front Endocrinol"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1007\/s00223-019-00568-3","article-title":"Continued beneficial effects of burosumab in adults with X-linked\n                    hypophosphatemia: results from a 24-week treatment continuation period after a\n                    24-week double-blind placebo-controlled period","volume":"105","author":"A A Portale","year":"2019","journal-title":"Calcif Tissue Int"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1530\/EC-17-0154","article-title":"Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked\n                    hypophosphatemic rickets (XLHR)","volume":"6","author":"A Gizard","year":"2017","journal-title":"Endocr Connect"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1007\/s12325-019-01193-0","article-title":"Exploring the burden of X-linked hypophosphataemia: an opportunistic qualitative\n                    study of patient statements generated during a technology appraisal","volume":"37","author":"N Ferizovi\u0107","year":"2020","journal-title":"Adv Ther"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1007\/s00198-020-05548-0","article-title":"Burden of disease associated with X-linked hypophosphataemia in adults: a\n                    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report","volume":"32","author":"R Areses-Trapote","year":"2012","journal-title":"Nefrologia"},{"key":"ref57","first-page":"242","article-title":"Hypophosphatemic rickets: case report","volume":"36","author":"M Maia","year":"2018","journal-title":"Rev Paul Pediatr"},{"key":"ref58","first-page":"1","article-title":"Hypophosphatemic rickets in siblings: a rare case report","volume":"2016","author":"G Sarat","year":"2016","journal-title":"Case Rep Dent"},{"key":"ref59","doi-asserted-by":"crossref","first-page":"304","DOI":"10.3389\/fphys.2019.00304","article-title":"The EPO-FGF23 signaling pathway in erythroid progenitor cells: Opening a new\n                    area of research","volume":"10","author":"A J Van Vuren","year":"2019","journal-title":"Front Physiol"}],"container-title":["Hormone and Metabolic 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