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Related Concept Videos

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Related Experiment Video

Updated: Mar 8, 2026

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
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X-linked hypophosphatemia and growth.

R Fuente1, H Gil-Peña2, D Claramunt-Taberner1

  • 1Division of Pediatrics, Department of Medicine. Faculty of Medicine, University of Oviedo, Oviedo, Asturias, Spain.

Reviews in Endocrine & Metabolic Disorders
|January 29, 2017
PubMed
Summary

X-Linked hypophosphatemia (XLH) is a genetic disorder causing phosphate wasting and rickets. Current treatments have limitations, but therapies targeting fibroblast growth factor 23 (FGF23) show promise for improving growth in affected children.

Keywords:
BoneGrowthGrowth plateHypophosphatemiaPhosphateRickets

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Area of Science:

  • Genetics
  • Endocrinology
  • Pediatric Bone Diseases

Background:

  • X-Linked hypophosphatemia (XLH) is the most common genetic rickets, caused by PHEX gene mutations.
  • XLH presents with hypophosphatemia, renal phosphate wasting, low 1,25-dihydroxyvitamin D, and elevated FGF23.
  • Clinical manifestations like short stature and bone deformities vary significantly among patients.

Purpose of the Study:

  • To review current knowledge on phosphorus metabolism in XLH.
  • To provide updated information on XLH and its impact on growth.
  • To discuss growth hormone therapy and novel FGF23-targeting treatments for XLH.

Main Methods:

  • Literature review of phosphorus metabolism in XLH.
  • Analysis of growth patterns in XLH patients.
  • Examination of FGF23 effects on the growth plate using the Hyp mouse model.

Main Results:

  • Growth impairment in XLH is not directly correlated with hypophosphatemia severity or skeletal deformities.
  • Phosphate and vitamin D therapies do not fully normalize height.
  • Growth hormone accelerates growth but carries risks; FGF23 inhibition is a promising therapeutic avenue.

Conclusions:

  • Understanding FGF23's role is crucial for developing effective XLH treatments.
  • Novel therapies targeting FGF23 may offer improved growth outcomes for children with XLH.
  • Further research is needed on the long-term effects of FGF23 blockade during skeletal development.