Homozygous mutation in the insulin receptor gene and mild form of insulin resistance syndrome; a case report

Yükleniyor...
Küçük Resim

Tarih

2021

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Erişim Hakkı

info:eu-repo/semantics/openAccess

Özet

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.

Açıklama

Anahtar Kelimeler

Hirsutism, Insulin Resistance, Insulin Receptor Gene

Kaynak

J Clin Res Pediatr Endocrinol

WoS Q Değeri

Q3

Scopus Q Değeri

N/A

Cilt

Sayı

Künye

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.