TSHR基因突变所致先天性甲状腺功能异常的临床研究
Clinical Study of Congenital Thyroid Dysfunction Caused by TSHR Gene Mutation
摘要: 研究发现，促甲状腺激素受体(thyroid stimulating hormone receptor, TSHR)基因突变可导致甲状腺结构或功能异常。TSHR基因突变所致先天性甲状腺功能异常临床表型与突变类型高度异质，重者可危及生命或遗留不可逆后遗症；轻者可无临床症状，仅表现为生化水平的甲状腺功能异常。为避免严重并发症或后遗症发生，需做到早发现、早诊断、早治疗。为了增强对TSHR基因突变所致先天性甲状腺功能异常疾病的认识，本文将从甲状腺激素(thyroid hormone, TH)的产生与功能、TSHR的结构、突变类型及TSHR基因突变所致原发性先天性甲状腺功能异常的临床表现、诊断及治疗等方面进行综述。
Abstract: Studies have found that mutations in the thyroid stimulating hormone receptor (TSHR) gene can lead to abnormal thyroid structure or function. The clinical phenotype and mutation type of con-genital thyroid dysfunction caused by TSHR gene mutation are highly heterogeneous; severe cases may be life-threatening or have irreversible sequelae; mild cases may be asymptomatic, only showing thyroid dysfunction at the biochemical level. In order to avoid serious complications or se-quelae, it is important to detect, diagnose and treat these diseases as early as possible. The synthe-sis and function of thyroid hormone, the structure and mutation types of TSHR, and the clinical manifestations, diagnosis and treatments of thyroid dysfunction caused by TSHR gene mutations were reviewed, to enhance the understanding of these diseases.
文章引用：陈永琴, 朱岷. TSHR基因突变所致先天性甲状腺功能异常的临床研究[J]. 临床医学进展, 2022, 12(5): 3861-3865. https://doi.org/10.12677/ACM.2022.125558

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