To describe the outcomes of rhIGF-1 treatment in patients with Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS) and to highlight the significance of comparing these outcomes to previously published cases.
Key Findings:
Metabolic benefits of rhIGF-1 included improved glycemic control, fasting tolerance in early life, and some growth enhancement.
Two patients exhibited poor response or intolerance to rhIGF-1 and died in infancy.
The two longest-lived patients progressed to diabetes mellitus despite rhIGF-1 therapy.
New features associated with severe insulin receptoropathies included cataract, liver hemangioma, and impaired hepatic protein synthesis.
Interpretation:
Current treatment options for DS and RMS remain unsatisfactory, with rhIGF-1 providing limited benefits and not preventing diabetes mellitus decompensation; thus, there is an urgent need for alternative treatment strategies.
Limitations:
Small sample size and retrospective nature of the study.
Lack of controlled studies and potential biases in existing literature, including selection and reporting biases.
Conclusion:
Further research is urgently needed to identify alternative treatment strategies for extreme forms of insulin resistance, as high-dose rhIGF-1 has only limited beneficial effects.
