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Growth hormone treatment improves final height in children with X-linked hypophosphatemia

Julia André1, Volha V Zhukouskaya2,3, Anne-Sophie Lambert1,4

  • 1AP-HP, Endocrinology and Diabetes for Children, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, DMU SEA, OSCAR Filière, EndoRare and BOND ERN, Bicêtre Paris Saclay Hospital, 78 Rue du Général Leclerc, 94270, Le Kremlin Bicêtre, France.

Orphanet Journal of Rare Diseases
|December 21, 2022
PubMed

Insights

Recombinant human growth hormone (rhGH) treatment significantly improves height in children with X-linked hypophosphatemia (XLH) and growth failure. This therapy offers a viable option for addressing short stature in XLH patients despite conventional treatments.

Area of Science:

  • Pediatric Endocrinology
  • Genetics and Inherited Diseases
  • Growth and Development Disorders

Background:

  • X-linked hypophosphatemia (XLH) often results in linear growth failure, impacting final height in approximately 40-50% of children, even with optimal conventional therapy.
  • Conventional treatments include oral phosphate supplements and active vitamin D analogs, yet growth impairment persists in a significant proportion of pediatric patients.

Purpose of the Study:

  • To investigate the efficacy of recombinant human growth hormone (rhGH) in improving final height for children diagnosed with XLH and experiencing growth failure.
  • To test the hypothesis that rhGH treatment can enhance linear growth in pediatric XLH patients who have not achieved adequate stature with standard care.

Main Methods:

  • A retrospective longitudinal analysis was conducted on two cohorts of children with XLH.
  • One cohort (n=34) received rhGH treatment for short stature, while a control cohort (n=29) did not receive rhGH.
  • Auxological parameters were collected at various time points throughout the treatment duration (mean 4.4 years) until final adult height was achieved.

Main Results:

  • rhGH therapy led to a significant height increase in treated children, from -2.4 SDS to -1.5 SDS within two years (p < 0.001).
  • The mean final height in the rhGH-treated group was -1.3 SDS (165.5 cm for boys, 155.5 cm for girls).
  • Importantly, final heights were comparable between the rhGH-treated group (-1.3 SDS) and the untreated group (-1.2 SDS), indicating rhGH's role in achieving height potential within the XLH context.

Conclusions:

  • Recombinant human growth hormone (rhGH) treatment is effective in improving final height for children with X-linked hypophosphatemia (XLH) experiencing growth failure.
  • rhGH therapy should be considered a potential treatment option for managing short stature in pediatric patients with XLH, complementing conventional therapies.
  • This study supports the use of rhGH to optimize growth outcomes in children with XLH who do not respond adequately to standard medical management.
Abstract

Keywords:
Fibroblast growth factor 23Final heightRecombinant human growth hormoneRicketsX-linked hypophosphatemia

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