先天性甲状腺功能减低相关的遗传综合征  

The genetic syndromes related to congenital hypothyroidism

作　　者：宫丽霏[1] 孔元原[1] Gong Lifei;Kong Yuanyuan(Department of Newborn Screening Center,Beijing Obstetrics and Gynecology Hospital,Capital Medical University,Beijing Maternal and Child Health Care Hospital,Beijing 100026,China)

机构地区：[1]首都医科大学附属北京妇产医院,北京妇幼保健院新生儿疾病筛查科,北京100026

出　　处：《国际遗传学杂志》2023年第5期349-355,共7页International Journal of Genetics

摘　　要：随着新生儿疾病筛查的普及, 先天性甲状腺功能减低症的发病率呈逐年升高趋势;通过对其遗传学病因的研究, 发现了一些基因突变导致的遗传综合征以先天性甲状腺功能减低为临床表现, 但目前国内对此类综合征认识不足, 容易发生漏诊或延误治疗, 可能导致病情进展和不良预后。本文现将与先天性甲状腺功能减低相关的遗传综合征作一综述, 以增进临床医生对此类综合征的了解, 并有助于国内学者对先天性甲减遗传学机制更深入的研究。With the popularization of newborn screening,the incidence rate of congenital hypothyroidism(CH)is increasing year by year.Through the study of its genetic etiology,it has been found that some genetic syndromes caused by gene mutations are clinically manifested as congenital hypothyroidism.However,there is currently insufficient understanding of such syndromes in China,which can lead to missed diagnosis or delayed treatment,and may lead to disease progression and adverse prognosis.This article reviews the genetic syndromes related to congenital hypothyroidism,in order to enhance clinicians’understanding of such syndromes and contribute to further study by domestic scholars on the genetic mechanisms of congenital hypothyroidism.

关 键 词：先天性甲状腺功能减低症 遗传综合征 基因 

分 类 号：R722.1[医药卫生—儿科]