Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Previous reports demonstrate a role for recombinant human IGF1 (rhIGF1), however optimal treatment strategy remains unclear.
Case series: Four males with DS have been treated with bolus rhIGF1 (see table below). They had no IGF1 response on an IGF1 generation test. No long-term side effects of rhIGF1 were reported.
Conclusion: High dose rhIGF1 is safe and can mitigate metabolic abnormalities in patients with DS. We report survival into adolescence in a patient with no severe comorbidities, in whom the fast tolerance dramatically improved on rhIGF1 and long-term growth was relatively preserved. Although a twice daily regimen is the most frequently reported, 8 h administration may be required to optimise metabolic control, as demonstrated in Patient 2.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology