CAJ | 학술논문

先天性甲状腺功能减退症(CH)是最常见的新生儿内分泌疾病之一,主要表现为甲状腺激素合成不足、智能落后、生长发育迟缓等.甲状腺激素的合成依赖于甲状腺球蛋白(TG)的正常分子构象,TG基因突变可导致CH伴甲状腺肿大.目前在CH中已发现55种TG基因突变类型,包括错义突变、无义突变、剪接位点突变、核苷酸缺失及插入.这些TG基因突变使TG分子构象改变,影响其正常折叠、成熟和转运.随着TG基因突变类型的增多,其基因型-表型关系也越来越复杂.
선천성갑상선공능감퇴증(CH)시최상견적신생인내분비질병지일,주요표현위갑상선격소합성불족、지능락후、생장발육지완등.갑상선격소적합성의뢰우갑상선구단백(TG)적정상분자구상,TG기인돌변가도치CH반갑상선종대.목전재CH중이발현55충TG기인돌변류형,포괄착의돌변、무의돌변、전접위점돌변、핵감산결실급삽입.저사TG기인돌변사TG분자구상개변,영향기정상절첩、성숙화전운.수착TG기인돌변류형적증다,기기인형-표형관계야월래월복잡.
Congenital hypothyroidism (CH) is one of the most common neonatal endocrine disorders.It is characterized by low serum thyroid hormones,mental retardation,growth failure.Biosynthesis of thyroid hormone requires a normal structure of thyroglobulin (TG).TG gene mutations can resuh in CH with goiter.Up to now,55 mutations of human TG gene have been identified including missense mutation,nonsense mutation,splice site mutation,nucleotide deletion and insertion.These mutations alter the normal structure of TG,consequently influence its folding,maturity,and transportation.The more TG gene mutations that exist,the more complicated the relationships of genotype and phenotype become.