Type A Insulin Resistance Syndrome Due to a Pathogenic Variant in the INSR Gene.
S Afzal, E Brosnan, M S Sadiq et al.
✦ AI-curated · Sources linked
Case in brief
A woman in her 40s, initially diagnosed with type 1 diabetes, presented with a 30-year history of fluctuating insulin sensitivity and later developed insulin resistance, despite being non-obese. Genetic testing revealed a heterozygous pathogenic variant in the INSR gene, confirming Type A Insulin Resistance Syndrome. Management transitioned from insulin therapy to oral hypoglycaemic agents, leading to partial glycaemic improvement.
What made this case unusual
The patient's atypical metabolic course and prolonged insulin independence, combined with a strong family history of young-onset diabetes, contributed to the diagnostic challenge.
Diagnostic / clinical pearl
Clinicians should consider genetic evaluation for patients with atypical diabetes presentations, particularly when there is a family history of early-onset diabetes.
Why it matters
This case highlights the risk of misclassifying Type A Insulin Resistance Syndrome as type 1 or type 2 diabetes, emphasizing the need for awareness and early genetic testing.