Treatment of Monogenic Diabetes with Severe Insulin Resistance Due to INSR Mutation and Acanthosis Nigricans
This protocol covers patients with monogenic diabetes caused by an INSR mutation, presenting with severe insulin resistance, prominent acanthosis nigricans, and markedly elevated fasting insulin (>150 pmol/L) or substantially increased insulin requirements — without a corresponding degree of obesity.
INSR mutations are responsible for a number of rare insulin resistance syndromes. The cardinal features include moderate to severe acanthosis nigricans together with either markedly increased fasting insulin concentrations or, in established diabetes, insulin requirements that far exceed what the degree of obesity alone would explain.
Management typically requires extraordinarily high doses of insulin, with specific alternative therapeutic approaches available for particular patient subgroups. The complete structured regimen is available via the link below.
References
DOI: 10.1111/pedi.13426
- INSR mutations are responsible for a number of rare IR syndromes.
- The cardinal features of IR syndromes include moderate to severe acanthosis nigricans in association either with markedly increased insulin concentrations (fasting insulin >150 pmoL/L) or, where there is diabetes, increased insulin requirements, usually in the absence of a corresponding degree of obesity.
- Insulin sensitizers such as metformin may be tried initially but most will need extraordinarily high doses of insulin, with limited effect.