| 李红,刘成山,拉珍.先天性甲状腺功能减退症患儿TSHR基因突变及其与血清FT4水平的关系.[J].中南医学科学杂志.,2024,(6):976-979. |
| 先天性甲状腺功能减退症患儿TSHR基因突变及其与血清FT4水平的关系 |
| TSHR gene mutation in children with congenital hypothyroidism and its relationship with serum FT4 |
| 投稿时间：2024-03-20 修订日期：2024-10-22 |
| DOI：10.15972/j.cnki.43-1509/r.2024.06.025 |
| 中文关键词: 先天性甲状腺功能减退症 TSHR基因 FT4 |
| 英文关键词:congenital hypothyroidism TSHR gene FT4 |
| 基金项目:青海省卫生健康委员会指导性课题(2020-wjzdx-129) 作者简介:李红,主治医师,研究方向为新生儿消化系统疾病的治疗,E-mail为Lhong217@163.com。 |
|
| 摘要点击次数: 37 |
| 全文下载次数: 30 |
| 中文摘要: |
| 目的探究先天性甲状腺功能减退症(CH)患儿TSHR基因突变及其与血清游离甲状腺素(FT4)水平的关系。 方法选择40例先天性甲状腺功能减退症患儿作为观察组,将其按血清FT4水平分为FT4正常组22例和低FT4组18例；另取同期体检健康志愿者40例作为对照组。比较各组TSHR基因突变分布情况,分析其与血清FT4水平的关系。 结果观察组TSHR基因rsl991517位点的基因型CC、等位基因C低于对照组,基因型CG、GG、等位基因G高于对照组；低FT4组基因型CC、CG、等位基因C高于FT4正常组,基因型GG、等位基因G低于FT4正常组(P＜0.05)。观察组TT3、TT4、FT3、FT4低于对照组,TSH、TPO-Ab、TGAb、TRAb高于对照组；低FT4组FT4低于FT4正常组,TSH高于FT4正常组(P＜0.05)。相关性分析发现,TSHR基因rsl991517位点基因型GG、等位基因G与血清FT4水平呈正相关(P＜0.05)。 结论TSHR基因rs1991517位点的突变与血清FT4水平呈正相关,可作为未来治疗的重要靶点。 |
| 英文摘要: |
| AimTo explore the TSHR gene mutation and its relationship with free thyroxine (FT4) in children with congenital hypothyroidism (CH). MethodsA total of 40 children with congenital hypothyroidism were selected as the observation group and divided into 22 cases in the normal FT4 group and 18 cases in the low FT4 group according to the serum FT4 level. In addition, 40 healthy volunteers were selected as the control group during the same period. The distribution of TSHR gene mutations between the two groups was compared, and the relationship between TSHR gene mutations and clinical phenotype was analyzed. ResultsThe genotype CC and allele C at the rsl991517 locus of the TSHR gene in the observation group were lower than those in the control group, while the genotypes CG, GG, and allele G were higher than those in the control group; The genotype CC, CG, and allele C of the low FT4 group were higher than those of the FT4 normal group, while the genotype GG and allele G were lower than those of the FT4 normal group (P＜0.05). The observation group had lower levels of TT3, TT4, FT3, and FT4 compared with the control group, while TSH, TPO-Ab, TGAb, and TRAb were higher than the control group; The FT4 level in the low FT4 group is lower than that in the normal FT4 group, while the TSH level is higher than that in the normal FT4 group (P＜0.05). Correlation analysis revealed that the genotype GG and allele G at the rsl991517 locus of the TSHR gene were positively correlated with clinical phenotype (P＜0.05). ConclusionThe mutation at the rs1991517 locus of the TSHR gene is positively correlated with serum FT4 levels and can serve as an important target for future treatment. |
| 查看全文 查看/发表评论 下载PDF阅读器 |
| 关闭 |
|
|
|