Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report
Yıl: 2021 Cilt: 13 Sayı: 1 Sayfa Aralığı: 100 - 103 Metin Dili: İngilizce DOI: 10.4274/jcrpe.galenos.2020.2019.0213 İndeks Tarihi: 04-12-2021
Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report
Öz: 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.
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| APA | Hacihamdioglu B, baş e, Delil K (2021). Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report. , 100 - 103. 10.4274/jcrpe.galenos.2020.2019.0213 |
| Chicago | Hacihamdioglu Bulent,baş elif gülşah,Delil Kenan Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report. (2021): 100 - 103. 10.4274/jcrpe.galenos.2020.2019.0213 |
| MLA | Hacihamdioglu Bulent,baş elif gülşah,Delil Kenan Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report. , 2021, ss.100 - 103. 10.4274/jcrpe.galenos.2020.2019.0213 |
| AMA | Hacihamdioglu B,baş e,Delil K Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report. . 2021; 100 - 103. 10.4274/jcrpe.galenos.2020.2019.0213 |
| Vancouver | Hacihamdioglu B,baş e,Delil K Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report. . 2021; 100 - 103. 10.4274/jcrpe.galenos.2020.2019.0213 |
| IEEE | Hacihamdioglu B,baş e,Delil K "Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report." , ss.100 - 103, 2021. 10.4274/jcrpe.galenos.2020.2019.0213 |
| ISNAD | Hacihamdioglu, Bulent vd. "Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report". (2021), 100-103. https://doi.org/10.4274/jcrpe.galenos.2020.2019.0213 |
| APA | Hacihamdioglu B, baş e, Delil K (2021). Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report. Journal of Clinical Research in Pediatric Endocrinology, 13(1), 100 - 103. 10.4274/jcrpe.galenos.2020.2019.0213 |
| Chicago | Hacihamdioglu Bulent,baş elif gülşah,Delil Kenan Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report. Journal of Clinical Research in Pediatric Endocrinology 13, no.1 (2021): 100 - 103. 10.4274/jcrpe.galenos.2020.2019.0213 |
| MLA | Hacihamdioglu Bulent,baş elif gülşah,Delil Kenan Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report. Journal of Clinical Research in Pediatric Endocrinology, vol.13, no.1, 2021, ss.100 - 103. 10.4274/jcrpe.galenos.2020.2019.0213 |
| AMA | Hacihamdioglu B,baş e,Delil K Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report. Journal of Clinical Research in Pediatric Endocrinology. 2021; 13(1): 100 - 103. 10.4274/jcrpe.galenos.2020.2019.0213 |
| Vancouver | Hacihamdioglu B,baş e,Delil K Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report. Journal of Clinical Research in Pediatric Endocrinology. 2021; 13(1): 100 - 103. 10.4274/jcrpe.galenos.2020.2019.0213 |
| IEEE | Hacihamdioglu B,baş e,Delil K "Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report." Journal of Clinical Research in Pediatric Endocrinology, 13, ss.100 - 103, 2021. 10.4274/jcrpe.galenos.2020.2019.0213 |
| ISNAD | Hacihamdioglu, Bulent vd. "Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report". Journal of Clinical Research in Pediatric Endocrinology 13/1 (2021), 100-103. https://doi.org/10.4274/jcrpe.galenos.2020.2019.0213 |
