Rev Esp Endocrinol Pediatr
Vol. 16 Suppl Issue 1 Year 2025  

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Rev Esp Endocrinol Pediatr 2025;16 Suppl(1):81-82 | Doi. 10.3266/RevEspEndocrinolPediatr.pre2025.Mar.963
Hipofosfatemia ligada al cromosoma X (XLH). ¿Debemos buscar lo obvio?
X-Linked Hypophosphatemia (XLH). Should we look for the obvious?
Sent for review: 20 Mar. 2025 | Accepted: 20 Mar. 2025  | Published: 24 Mar. 2025
Agnès Linglart
Paris Saclay University. AP-HP. Department of Endocrinology and Diabetology for Children. Bicêtre Paris Saclay Hospital. Le Kremlin-Bicêtre, France .

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References
  1. Haffner, D. et al. Clinical practice recommendations for the diagnosis and management of Xlinked hypophosphataemia. Nat Rev Nephrol (2025) doi:10.1038/s41581-024-00926-x.
  2. Vasques, G. A. et al. IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy. J Clin Endocrinol Metab 103, 604– 614 (2018).
  3. Goji, K., Ozaki, K., Sadewa, A. H., Nishio, H. & Matsuo, M. Somatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait. J. Clin. Endocrinol. Metab. 91, 365–370 (2006).


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