S Afzal, E Brosnan, M S Sadiq, S R Rizvi, Z Wassem, F Iqbal
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引用次数: 0
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.
期刊介绍：
Since its inception in 1867, the Journal of the Medical Association of Ireland and now in its present format, the Irish Medical Journal, has provided the medical community in Ireland with an invaluable service. As one of the leading biomedical publications in Ireland, it has sought to continue the education of medical students and postgraduates through scientific research, review articles and updates on contemporary clinical practices while providing an ongoing forum for medical debate. A measure of our stature is that we are listed in the Index Medicus and issued annually with a citation factor from the Institute for Scientific Information.
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