TY  - JOUR
TI  - Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report
AB  - Insulin receptor (INSR) mutations lead to heterogeneous disorders that may be as severe as Donohue syndrome or as mild as “type A insulin resistance syndrome”. Patients with severe disorders usually harbor homozygous or compound heterozygous mutations. In contrast, type A insulin resistance syndrome has been associated with heterozygous mutations; homozygous mutations are rarely responsible for this condition. We report a novel, homozygous mutation, p.Leu260Arg in exon 3, of the INSR gene in a female adolescent patient with type A insulin resistance syndrome together with clinical details of her medical follow-up. Different mutations in the INSR gene cause different phenotype and vary depending on the inheritance pattern. This report adds to the literature, increases understanding of the disease mechanism and aids in genetic counseling.
AU  - Delil, Kenan
AU  - Hacihamdioglu, Bulent
AU  - baş, elif gülşah
DO  - 10.4274/jcrpe.galenos.2020.2019.0213
PY  - 2021
JO  - Journal of Clinical Research in Pediatric Endocrinology
VL  - 13
IS  - 1
SN  - 1308-5727
SP  - 100
EP  - 103
DB  - TRDizin
UR  - http://search/yayin/detay/466505
ER  -