疑似甲状腺激素合成障碍性先天性甲状腺功能减低症相关致病基因综述

A REVIEW ON CAUSATIVE GENES OF SUSPECTED DYSHORMONOGENETIC CONGENITAL HYPOTHYROIDISM

先天性甲状腺功能减低症(CH)是引起儿童体格生长和神经发育障碍最常见的内分泌疾病,但其发病机制目前尚未阐明。甲状腺发育异常是CH的主要原因,但近年来由甲状腺激素合成障碍所致CH比例呈升高趋势。明确CH的分子诊断,对于明确CH基因型与表型关系谱、CH的诊断治疗和遗传咨询具有重要的指导作用。本文将对疑似甲状腺激素合成障碍性CH相关致病基因进行综述,并对我国目前已报道的基因突变位点进行汇总,旨在进一步明确其分子致病机制,为临床CH的早期诊断及遗传咨询提供理论依据。

Congenital hypothyroidism(CH)is the most common endocrine disease causing growth and neurodevelopmental disorders in children,but its pathogenesis has not yet been elucidated.Thyroid dysplasia is the main cause of CH,but the proportion of CH due to thyroid dyshormonogenesis has been increasing in recent years.A clear molecular diagnosis of CH is an important guide for the diagnosis and treatment of CH and genetic counseling.In this paper,we will review the causative genes of suspected dyshormonogenetic congenital hypothyroidism,and summarize the reported gene mutation sites in China,aiming to further clarify the molecular pathogenic mechanism and provide theoretical basis for early diagnosis and genetic counseling of CH in clinical work.