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
November 2024
in “
Diabetes Metabolic Syndrome and Obesity
”
TLDR A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
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.
nkrata 
