ESPE Abstracts

Background: Turner Syndrome (TS) is determine by karyotype analysis marked by loss or partial loss of one X chromosome in female. Apart from the distinctive physical traits such as short stature, sexual infantilism, and low-set ears, TS patients are more susceptible to shorter life expectancy as well as various endocrine disease including autoimmune disease. Previous studies have suggested that X chromosome count variation may play a role in genetic expression...

Objective: We try to investigate the polymorphisms and amino acid variants of HLA-A, -B, -C, -DRB1, -DQB1, -DPB1 molecules in early-onset AITD.Methods: The genotypes of HLA-A, B, C, DRB1, DQB1, and DPB1 on AITD were analyzed in 102 Korean children with AITDs (Graves’ disease (GD)=62, Hashimoto’s disease (HD)=40) and 142 healthy control using sequence-based typing. Analysis of variant amino acids was performed across the genotyping results with ...