Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data
复制标题
暂时性和永久性先天性甲状腺功能减退症基因突变与表型特征之间的复杂关系：汇总文献数据分析
DOI：
10.1155/2020/6808517
复制
发表时间：
2020-05-29
影响因子：
2.8
通讯作者：
Yu, Bin
中科院分区：
文献类型：
--
作者：
Long, Wei;Zhou, Lingna;Yu, Bin
目的。先天性甲状腺功能减退症(CH)患者的突变和表型特征尚不清楚，也没有关于突变决定一过性CH(TCH)或永久性CH(PCH)结局的研究报道。方法：研究方法。我们搜索了截至2019年4月的文献。进行符合条件的研究和数据提取。我们评估了CH合并患者的突变与表型特征之间的关系。结果。从41项符合条件的研究中汇集了241例病例。94例TCH和147例PCH患者的甲状腺形态、突变基因分类和突变类型不同。PAX8、TSHR、FOXE1和NKX2-5等位基因的杂合性错义突变占多数，携带这些突变基因的患者发生PCH的风险较高(OR=37.38，95%CI5.04~277.21，P
Purpose. Mutations and phenotypic characteristics remain unclear in patients with congenital hypothyroidism (CH), and no study concerning whether the outcome of transient CH (TCH) or permanent CH (PCH) is determined by mutations has been reported. Methods. We searched the literature up to April 2019. Eligible studies and data extraction were performed. We estimated the relationship between mutations and phenotypic characteristics in pooled patients with CH. Results. Two hundred forty-one cases were pooled from 41 eligible studies. The thyroid morphology, classification of mutated genes, and types of mutations were different between 94 patients with TCH and 147 patients with PCH. Heterozygous missense mutations prevailed in PAX8, TSHR, FOXE1, and NKX2-5, and patients with these mutated genes had a higher risk of PCH (OR = 37.38, 95% CI 5.04-277.21, P