Homozygous mutation in the insulin receptor gene and mild form of insulin resistance syndrome; a case report
| dc.authorid | Bülent Hacıhamdioğlu / 0000-0001-7070-6429 | en_US |
| dc.authorscopusid | Bülent Hacıhamdioğlu / 22134579900 | |
| dc.authorwosid | Bülent Hacıhamdioğlu / GBK-6773-2022 | |
| dc.contributor.author | Hacıhamdioğlu, Bülent | |
| dc.contributor.author | Baş, Elif Gülşah | |
| dc.contributor.author | Delil, Kenan | |
| dc.date.accessioned | 2020-09-24T14:00:01Z | |
| dc.date.available | 2020-09-24T14:00:01Z | |
| dc.date.issued | 2021 | en_US |
| dc.department | İstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü | en_US |
| dc.description.abstract | Insulin 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. | en_US |
| dc.identifier.citation | Hacihamdioglu, B., Elif, B. G., & Delil, K. (2020). Homozygous mutation in the insulin receptor gene and mild form of insulin resistance syndrome; a case report. | en_US |
| dc.identifier.doi | 10.4274/jcrpe.galenos.2020.2019.0213 | en_US |
| dc.identifier.pmid | 32018348 | en_US |
| dc.identifier.scopus | 2-s2.0-85102452001 | en_US |
| dc.identifier.scopusquality | N/A | en_US |
| dc.identifier.trdizinid | 466505 | en_US |
| dc.identifier.uri | https://doi.org/10.4274/jcrpe.galenos.2020.2019.0213 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12713/1102 | |
| dc.identifier.wos | WOS:000624138000011 | en_US |
| dc.identifier.wosquality | Q3 | en_US |
| dc.indekslendigikaynak | Web of Science | en_US |
| dc.indekslendigikaynak | Scopus | en_US |
| dc.indekslendigikaynak | TR-Dizin | en_US |
| dc.indekslendigikaynak | PubMed | en_US |
| dc.institutionauthor | Hacıhamdioğlu, Bülent | |
| dc.language.iso | en | en_US |
| dc.relation.ispartof | J Clin Res Pediatr Endocrinol | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.subject | Hirsutism | en_US |
| dc.subject | Insulin Resistance | en_US |
| dc.subject | Insulin Receptor Gene | en_US |
| dc.title | Homozygous mutation in the insulin receptor gene and mild form of insulin resistance syndrome; a case report | en_US |
| dc.type | Article | en_US |
