Case Report: Growth hormone deficiency and response to treatment in MIRAGE syndrome: expanding the endocrine phenotype - Summary - MDSpire

Case Report: Growth hormone deficiency and response to treatment in MIRAGE syndrome: expanding the endocrine phenotype

  • By

  • Laura Trapani

  • Marta Cognigni

  • Natalia Maximova

  • Erica Valencic

  • Alice Fachin

  • Gianluca Tamaro

  • Alberto Tommasini

  • Gianluca Tornese

  • July 7, 2026

  • 0 min

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Objective:

To provide detailed clinical insights into growth hormone deficiency (GHD) in MIRAGE syndrome and the response to recombinant human growth hormone (rhGH) therapy.

Approach:
  • Case Presentation: An 11-year-old male with MIRAGE syndrome and GHD underwent comprehensive hormonal testing and received rhGH therapy after a risk-benefit analysis.
Key Findings:
  • The patient demonstrated significant improvement in growth velocity and height standard deviation score over six years.
  • Stable hematological parameters were observed with no adverse events during rhGH therapy.
  • This case is the first report of a favorable and safe medium-term response to rhGH therapy in MIRAGE syndrome.
Interpretation:

Limitations:
  • The study is based on a single case report, limiting generalizability.
  • Long-term effects of rhGH therapy in MIRAGE syndrome remain unclear.
Conclusion:

This case expands the known endocrine phenotype of MIRAGE syndrome.

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