Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother

This study reports a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) mutation in the INSR gene in a 12-year-old girl and her mother, both presenting with type A insulin resistance syndrome. The girl exhibited symptoms such as excessive hair growth on the chest and back, and hyperpigmentation on the back of the neck (acanthosis nigricans), which was first noticed at age 11. This case highlights the variable clinical phenotypes associated with INSR gene mutations.