{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T09:03:52Z","timestamp":1784624632648,"version":"3.55.0"},"reference-count":17,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T00:00:00Z","timestamp":1784592000000},"content-version":"vor","delay-in-days":19,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report a child with autosomal dominant hypophosphatemic rickets (ADHR) due to a novel pathogenic variant in fibroblast growth factor 23 (FGF23). A 1 year 10 month old girl was referred for rickets that did not respond to a single mega dose of vitamin D (600 000\u2005IU orally). Laboratory work-up revealed: calcium, 9.8\u2005mg\/dL (2.5\u2005mmol\/L) [reference range (ref.) 8-11\u2005mg\/dL (2-2.7\u2005mmol\/L)]; phosphorus, 2.1\u2005mg\/dL (0.7\u2005mmol\/L) [ref. 2.5-4.5\u2005mg\/dL (0.8-1.5\u2005mmol\/L)]; alkaline phosphatase, 1453\u2005IU\/L (24.2\u2005\u00b5kat\/L) [ref. 142-335 U\/L (2.4-5.6\u2005\u00b5kat\/L)]; 25-hydroxyvitamin D, 20.6\u2005ng\/mL (51.4\u2005nmol\/L) [ref. 30-100\u2005ng\/mL (74.8 \u2212249.6\u2005nmol\/L)]; 1,25-dihydroxyvitamin D, 47\u2005pg\/mL (117.3\u2005pmol\/L) [ref. 31-87\u2005pg\/mL (77.4 \u2212217.2\u2005pmol\/L)]; parathyroid hormone, 54.2\u2005pg\/mL (54.2\u2005ng\/L) [ref. 18 \u221280\u2005pg\/mL (18-80\u2005ng\/L)]. Tubular reabsorption of phosphate was 61.2%. Whole-exome sequencing identified a novel de novo heterozygous in-frame deletion variant, c.515_529 del (p.(Pro172_Arg176del)) in exon 3 of FGF23 confirming the diagnosis of ADHR and the variant was submitted to ClinVar. She was started on phosphate and calcitriol with clinical and biochemical improvement. She had mild iron deficiency anemia and iron supplementation (2\u2005mg\/kg\/day) was initiated, allowing further reduction in phosphate supplementation.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag193","type":"journal-article","created":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T11:40:28Z","timestamp":1784288428000},"source":"Crossref","is-referenced-by-count":0,"title":["Autosomal dominant hypophosphatemic rickets caused by a novel pathogenic variant in\n                    <i>FGF23<\/i>"],"prefix":"10.1210","volume":"4","author":[{"given":"Babu","family":"Francis","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Malabar Medical College Hospital and Research Center , Kozhikode, Kerala 673323 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vidhu","family":"Ashok","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Malabar Medical College Hospital and Research Center , Kozhikode, Kerala 673323 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aysha","family":"Ashraf","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Malabar Medical College Hospital and Research Center , Kozhikode, Kerala 673323 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0391-3759","authenticated-orcid":false,"given":"Sabitha","family":"Sasidharan Pillai","sequence":"additional","affiliation":[{"name":"Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles , Los Angeles, CA 90027 ,","place":["USA"]},{"name":"Department of Pediatrics, Keck School of Medicine, University of Southern California , Los Angeles, CA 90033 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2026,7,21]]},"reference":[{"issue":"3","key":"2026072104261780600_luag193-B1","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1159\/000538388","article-title":"A novel pathogenic variant in fibroblast growth factor 23 outside the furin-recognizing RXXR Motif in an autosomal dominant hypophosphatemic rickets patient","volume":"98","author":"Tanaka","year":"2025","journal-title":"Horm Res Paediatr"},{"issue":"2","key":"2026072104261780600_luag193-B2","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1016\/j.bone.2012.11.012","article-title":"Autosomal dominant hypophosphatemic rickets in an 85 year old woman: characterization of her disease from infancy through adulthood","volume":"52","author":"Seton","year":"2013","journal-title":"Bone"},{"key":"2026072104261780600_luag193-B3","article-title":"Autosomal dominant hypophosphatemic rickets presenting in a phenotypically normal adult female","volume":"2019","author":"Mualla","year":"2019","journal-title":"Case Rep Endocrinol"},{"issue":"1","key":"2026072104261780600_luag193-B4","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s00774-009-0111-5","article-title":"An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation","volume":"28","author":"Gribaa","year":"2010","journal-title":"J Bone Miner Metab"},{"issue":"5","key":"2026072104261780600_luag193-B5","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1038\/s41431-024-01776-8","article-title":"Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia","volume":"33","author":"Jacob","year":"2025","journal-title":"Eur J Hum Genet"},{"issue":"8","key":"2026072104261780600_luag193-B6","doi-asserted-by":"crossref","first-page":"2299","DOI":"10.1007\/s00467-021-05000-3","article-title":"Rickets, elevated fibroblast growth factor-23 and mild anemia: questions","volume":"36","author":"VanSickle","year":"2021","journal-title":"Pediatr Nephrol"},{"issue":"16","key":"2026072104261780600_luag193-B7","doi-asserted-by":"crossref","first-page":"8771","DOI":"10.3390\/ijerph18168771","article-title":"Autosomal dominant hypophosphatemic rickets: a case report and review of the literature","volume":"18","author":"Mameli","year":"2021","journal-title":"Int J Environ Res Public Health"},{"issue":"4","key":"2026072104261780600_luag193-B8","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1297\/cpe.2024-0054","article-title":"A case of autosomal dominant hypophosphatemic rickets","volume":"34","author":"Takishima","year":"2025","journal-title":"Clin Pediatr Endocrinol"},{"issue":"2","key":"2026072104261780600_luag193-B9","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1210\/jcem.82.2.3765","article-title":"Autosomal dominant hypophosphatemic rickets\/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder","volume":"82","author":"Econs","year":"1997","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"2026072104261780600_luag193-B10","doi-asserted-by":"crossref","first-page":"3388","DOI":"10.1210\/jc.2015-2391","article-title":"Iron supplementation associated with loss of phenotype in autosomal dominant hypophosphatemic rickets","volume":"100","author":"Kapelari","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"issue":"6","key":"2026072104261780600_luag193-B11","first-page":"305","article-title":"Loss of renal phosphate wasting in a child with autosomal dominant hypophosphatemic rickets caused by a FGF23 mutation","volume":"55","author":"Kruse","year":"2001","journal-title":"Horm Res"},{"key":"2026072104261780600_luag193-B12","first-page":"103","article-title":"Distintas formas de presentacion clinica de un raquitismo hipofosfatemico","volume":"64","author":"Negri","year":"2004","journal-title":"Medicina (B Aires)"},{"issue":"3","key":"2026072104261780600_luag193-B13","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/j.jcot.2015.03.004","article-title":"Revisiting \u201cthe double malleoli\u201d sign in nutritional rickets","volume":"6","author":"Kumar","year":"2015","journal-title":"J Clin Orthop Trauma"},{"issue":"7","key":"2026072104261780600_luag193-B14","doi-asserted-by":"crossref","first-page":"S35","DOI":"10.4103\/2230-8210.119503","article-title":"Renal rickets-practical approach","volume":"17","author":"Sahay","year":"2013","journal-title":"Indian J Endocrinol Metab"},{"issue":"1","key":"2026072104261780600_luag193-B15","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.eprac.2022.09.007","article-title":"Phosphatonins: from discovery to therapeutics","volume":"29","author":"Kritmetapak","year":"2023","journal-title":"Endocr Pract"},{"issue":"11","key":"2026072104261780600_luag193-B16","doi-asserted-by":"crossref","first-page":"2337","DOI":"10.1007\/s00198-025-07640-9","article-title":"Autosomal dominant hypophosphatemic rickets: a case report of two sisters with a novel FGF-23 mutation","volume":"36","author":"Mumbach","year":"2025","journal-title":"Osteoporos Int"},{"issue":"5","key":"2026072104261780600_luag193-B17","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/4\/8\/luag193\/69663235\/luag193.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/4\/8\/luag193\/69663235\/luag193.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T08:26:26Z","timestamp":1784622386000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luag193\/8738958"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,2]]},"references-count":17,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,7,2]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luag193","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,8]]},"published":{"date-parts":[[2026,7,2]]},"article-number":"luag193"}}