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.