ORIGINAL RESEARCH article
Front. Endocrinol.
Sec. Bone Research
This article is part of the Research TopicBone Metastases in Endocrine Cancers: Advances in Diagnosis, Treatment, and PreventionView all 9 articles
Biochemical evaluation of X-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO): insights into diagnosis and management
Provisionally accepted
Jorge Diaz-Garzón Marco1*
Pilar Aguado Acín2Esteban Jódar Jimeno3Pilar Fernández Calle2Vanessa Lopes Martín4
María Luisa González Casaus5- 1Department of Clinical Analysis, Hospital Universitario La Paz Hospital General, Madrid, Spain
- 2Quality Director, Department of Laboratory Medicine, Hospital Universitario La Paz, Madrid, Spain
- 3Head of the Department of Endocrinology and Nutrition, Hospital Universitario Quirón Salud Madrid, Pozuelo, Madrid, Spain
- 4Department of Nephrology, Hospital Universitario Ramón y Cajal, Madrid, Spain
- 5Department of Laboratory Medicine, Hospital Universitario La Paz Hospital General, Madrid, Spain
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Introduction: X-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO) are characterized by alterations in phosphate metabolism due to elevated levels of fibroblast growth factor 23 (FGF23). These conditions cause significant morbidity due to chronic hypophosphatemia and resulting musculoskeletal disorders. Objective: This study aims to provide clinical strategies for supporting the diagnosis and management of the biochemical profile of patients with XLH and TIO, addressing key considerations beyond the hypophosphatemia and hyperphosphaturia commonly observed in these conditions and addressing the variability and limitations of current biochemical marker detection methods. Materials and methods: A literature search focused on studies published in the last ten years. A multidisciplinary team analyzed the data to integrate the findings into clinical best practices. Results and discussion: The proposed approach emphasizes correctly performing and interpreting tests for serum phosphate, phosphaturia, FGF23, alkaline phosphatase (ALP), parathyroid hormone (PTH), vitamin D, serum calcium, and the calcium-corrected excretion rate. More standardization in screening methods is needed, which affects diagnostic accuracy and management. The recommendations include detailed protocols for patient preparation, sample collection, and interpretation of results. Conclusions: The recommendations for performing biochemical screening for XLH and TIO promote better clinical practices in patient diagnosis and management. Future research should focus on validating diagnostic methods in diverse populations and standardizing biochemical tests. Multidisciplinary approach to the diagnosis of these patients through the close collaboration of professionals of laboratory medicine and clinical specialties would be pivotal.
Keywords: FGF23, Hypophosphatemia, Tumor-induced osteomalacia, X-linkedhypophosphatemia, XLH
Received: 10 Sep 2025; Accepted: 30 Oct 2025.
Copyright: © 2025 Diaz-Garzón Marco, Aguado Acín, Jódar Jimeno, Fernández Calle, Lopes Martín and González Casaus. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Jorge Diaz-Garzón Marco, jdgmarco@gmail.com
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