CASE REPORT IN A PATIENT WITH TYPE A INSULIN RESISTANCE

Abstract

Introduction: Insulin resistance syndrome type A is one of the hereditary insulin resistance syndromes and is a rare disorder. Patients are not obese and most often present with severe hyperinsulinemia, hyperandrogenism, and acanthosis nigricans. The clinical features are more severe in women than in men and they usually present at puberty. Progression of insulin resistance can lead to metabolic syndrome, non-alcoholic fatty liver disease and type 2 diabetes mellitus. Case report: Female patient aged 14 years. 2 years ago, convulsions were registered, which were interpreted as epileptic seizures, which is why the neurologist prescribed therapy with Tabl. Kepra (leveti racetam). She took the therapy regularly for four months, but without improvement. Data on the occurrence of cramps during fasting and activity. Laboratory analyses- Insulin 300... 50..12; glycemia-5.4, HbA1c-5.23%, TSH-1.96; fT4-14.80; aTP-O-25.58, Cortisol-440 ,0;ACTH-20,14;Na-141;K-4,3;Ca++1,29,Vit.D-27,22. Genetic analyzes were per formed due to the presence of hypoglycemia during the attack (up to 1 mmol/l). There is a pathogenic change in the receptor for the insulin gene c 3601/C>T,p Arg 1201 Trp), a dominant mutation associated with hyperinsuline mic hypoglycemia (type A insulin resistance). Abdominal CT and OGTT-edited finding. Mother with epilepsy since 3 years, receives regular Phenobarbitone. Discussion: A hypoglycemic episode of any nature should be considered in patients with convulsions. Conclusion: Patients with episodes of severe hyperinsulinemia should be evaluated for congenital insulin resistance syndromes. Genetic testing helps in early diagnosis and appropriate treatment