A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

The study identified a heterozygous variant, c.1225_1227delTTC (p.Phe409del), in the insulin receptor gene associated with severe insulin resistance and hyperandrogenemia in an adolescent female with type A severe insulin resistance syndrome. This finding suggests that exon sequencing could be valuable for detecting potential mutations in the INSR gene, aiding in precise diagnosis and intervention for affected patients.