Determinants of final height in X-linked hypophosphatemia: impact of diagnostic delay and baseline growth in a Brazilian cohort - Report - MDSpire

Determinants of final height in X-linked hypophosphatemia: impact of diagnostic delay and baseline growth in a Brazilian cohort

  • By

  • Mauro Borghi

  • João Pedro Borghi Moreira

  • Leopoldo Muniz da Silva

  • July 2, 2026

  • 0 min

Share

Factors Influencing Final Height in X-Linked Hypophosphatemia

Overview

This study evaluates the impact of diagnostic timing and initial growth status on final height in patients with X-linked hypophosphatemia (XLH).

Background

X-linked hypophosphatemia (XLH) is a genetic disorder leading to impaired phosphate metabolism, resulting in rickets and growth failure. Early diagnosis is crucial to optimize growth trajectories and limit skeletal deformities. This study focuses on a Brazilian cohort to understand how age at diagnosis and baseline growth affect final height.

Data Highlights

MeasureValue
Mean height-for-age Z-score at diagnosis-1.90 ± 1.56
Mean final height Z-score-2.96 ± 1.15
Correlation of age at diagnosis with height-for-age Z-scorer = -0.77; P = 0.02

Key Findings

  • Age at diagnosis is inversely correlated with height-for-age Z-score.
  • Height-for-age Z-score at diagnosis is an independent predictor of final height.
  • Target height Z-score is positively associated with final height outcomes.
  • Sex and BMI-for-age Z-score do not significantly influence final height in this cohort.
  • Delayed diagnosis is linked to greater growth deficits and lower adult height.

Clinical Implications

Clinicians should monitor growth closely in patients diagnosed with XLH.

Conclusion

This study evaluates factors influencing final height in X-linked hypophosphatemia.

Related Resources & Content

  1. The Journal of Clinical Endocrinology & Metabolism, 2025 -- Global Insights on Monitoring Approaches for X-linked Hypophosphatemia in Pediatric and Adult Populations: Findings from Expert Survey
  2. The Journal of Clinical Endocrinology & Metabolism, 2025 -- Clinical Practice Guidelines for the Management of X-Linked Hypophosphatemia in Pediatric Patients: Insights from an International Working Group
  3. The Journal of Clinical Endocrinology & Metabolism, 2025 -- Bone Microarchitecture Evaluated by HR-PQCT in Chinese Adolescent and Pediatric Patients With X-Linked Hypophosphatemia
  4. The Journal of Clinical Endocrinology & Metabolism, 2025 -- Global Clinical Practice Guidelines for the Management of X-Linked Hypophosphatemia in Adults: Insights from an International Working Group
  5. X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline
  6. Burosumab versus continuation of conventional therapy in children with X-linked hypophosphatemia: a randomised, active-controlled, open-label, phase 3 trial
  7. EC-24-0605 1..10

Original Source(s)

Related Content