{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T15:53:07Z","timestamp":1790610787030,"version":"4.1.0"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,5]]},"abstract":"<jats:title>Vignette<\/jats:title>\n               <jats:p>An 18-month-old male presented with gross motor delay and poor growth (weight z-score \u22122.21, length z-score \u22124.26). Radiographs showed metaphyseal irregularities suggesting metaphyseal dysplasia and sagittal craniosynostosis. Biochemical evaluation supported hypophosphatemic rickets [serum phosphorus 2.3\u00a0mg\/dL (reference range (RR) 4.3\u20136.8), alkaline phosphatase 754 unit\/L (RR 156\u2013369)] due to renal phosphate wasting (TmP\/GFR 4.3\u00a0mg\/dL, normal for age 4.3-6.8), with C-terminal fibroblast growth factor 23 (FGF23) 125 RU\/mL (&amp;gt;90 during hypophosphatemia suggests FGF23-mediated hypophosphatemia). Treatment was initiated with calcitriol and phosphate. Genetic analysis showed a pathogenic variant of FGF23: c.527G\u2009&amp;gt;\u2009A (p.Arg176Gln) indicative of autosomal dominant hypophosphatemic rickets (ADHR). Consistent with reports linking iron deficiency with the ADHR phenotype, low ferritin was detected. Following normalization of ferritin level (41\u00a0ng\/mL) with oral ferrous sulfate replacement, biochemical improvement was demonstrated (FGF23 69 RU\/mL, phosphorus 5.0\u00a0mg\/dL and alkaline phosphatase 228 unit\/L). Calcitriol and phosphate were discontinued. Three years later, the patient demonstrated improved developmental milestones, linear growth (length Z-score \u22122.01), radiographic normalization of metaphyses, and stabilization of craniosynostosis. While the most common cause of hypophosphatemic rickets is X-linked hypophosphatemia, other etiologies should be considered as treatment differs. In ADHR, normalization of iron leads to biochemical and clinical improvement.<\/jats:p>","DOI":"10.1093\/jbmr\/zjae103","type":"journal-article","created":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T06:39:18Z","timestamp":1720679958000},"page":"821-825","source":"Crossref","is-referenced-by-count":3,"title":["Hypophosphatemic rickets and short stature"],"prefix":"10.1093","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3819-5777","authenticated-orcid":false,"given":"Kelli","family":"Davis","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Vanderbilt University Medical Center , Nashville, TN 37232, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7284-3467","authenticated-orcid":false,"given":"Erik A","family":"Imel","sequence":"additional","affiliation":[{"name":"Departments of Medicine and Pediatrics , Endocrinology, , Indianapolis, IN 46202, United States"},{"name":"Indiana University School of Medicine , Endocrinology, , Indianapolis, IN 46202, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9015-4737","authenticated-orcid":false,"given":"Jennifer","family":"Kelley","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Endocrinology, Vanderbilt University Medical Center , Nashville, TN 37232, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,7,11]]},"reference":[{"issue":"1","key":"2024080612130465200_ref1","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1210\/clinem\/dgac488","article-title":"Approach to hypophosphatemic rickets","volume":"108","author":"Ackah","year":"2022","journal-title":"J Clin Endocrinol 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