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

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  • 1

    X-linked hypophosphatemia (XLH) is a genetic disorder causing impaired phosphate metabolism, leading to rickets and growth failure.

  • 2

    In a Brazilian cohort, delayed diagnosis of XLH was associated with significant baseline growth impairment and poorer final height outcomes.

  • 3

    The study analyzed 41 patients, focusing on the correlation between age at diagnosis, baseline growth status, and final height Z-scores.

  • 4

    Height-for-age Z-score at diagnosis and age at diagnosis were identified as independent predictors of final height in XLH patients.

  • 5

    Conventional therapy improves rickets but rarely normalizes serum phosphate levels, highlighting the need for early diagnosis in XLH.

Original Source(s)

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

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