Hacıhamdioğlu, BülentBaş, Elif GülşahDelil, Kenan2020-09-242020-09-242021Hacihamdioglu, B., Elif, B. G., & Delil, K. (2020). Homozygous mutation in the insulin receptor gene and mild form of insulin resistance syndrome; a case report.https://doi.org/10.4274/jcrpe.galenos.2020.2019.0213https://hdl.handle.net/20.500.12713/1102Insulin receptor mutations lead to heterogeneous disorders; as severe as Donohue syndrome or as mild as “type A insulin resistance syndrome”. Patients with severe disorders are homozygous or compound heterozygous mutations. Generally patients with type A insulin resistance syndrome have been found to be heterozygous mutations, homozygous type mutations may rarely be responsible for this disease. We reported a novel homozygous mutation p.Leu260Arg on exon 3 on INSR gene in a patient with type A insulin resistance syndrome. In this article, we report an adolescent with type A insulin resistance syndrome due to a novel homozygous mutation on the INSR gene and detailed her medical follow-up. Different mutations in the INSR gene causes different phenotype and different inheritance pattern also, our report is important to making disease mechanisim understand and also helping genetic counseling process.eninfo:eu-repo/semantics/openAccessHirsutismInsulin ResistanceInsulin Receptor GeneArticle32018348WOS:0006241380000112-s2.0-85102452001Q310.4274/jcrpe.galenos.2020.2019.0213N/A466505