Type A Insulin Resistance Syndrome Due to a Pathogenic Variant in the INSR Gene
Abstract
Presentation: A woman in her 40s initially diagnosed with type 1 diabetes in 1994 exhibited an atypical 30-year metabolic course, characterised by fluctuating insulin sensitivity, prolonged insulin independence and later insulin resistance despite a non-obese phenotype.
Diagnosis: Owing to the unusual clinical trajectory and a strong family history of young-onset diabetes, genetic testing identified a heterozygous pathogenic INSR mutation (p.M1180K), confirming Type A Insulin Resistance Syndrome (TAIRS).
Treatment: Management evolved from insulin therapy to oral hypoglycaemic agents, including metformin and gliclazide alongside lifestyle modification resulting in partial glycaemic improvement.
Discussion: This case underscores the diagnostic challenge of TAIRS, which is frequently misclassified as type 1 or type 2 diabetes and highlights the importance of early genetic evaluation and multidisciplinary care.
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