Genetic test clarifies rare insulin resistance in teen with PCOS

This case report describes a 12-year-old female patient who presented with symptoms of Type A insulin resistance syndrome and polycystic ovary syndrome. She was not obese but had severe high insulin levels. Medical teams identified a new genetic change in the INSR gene that was not present in her parents. This specific change is called a de novo variant. The genetic finding was classified as likely pathogenic according to standard medical guidelines. This discovery expands the known list of gene changes that can cause these conditions in young people. The report also reviews similar cases reported since 2010 to provide more context. Long-term care for this condition requires a team approach involving doctors and nutritionists. Treatment plans must be tailored to the individual patient. This includes medication, medical nutrition therapy, and lifestyle changes. The diagnostic process shows that genetic testing is important for teens with atypical features. It helps explain why some patients do not respond to standard treatments. This report adds to the understanding of how these rare genetic conditions develop.