Advances in the relationship between DUOX2 gene mutations and clinical phenotypes of children with congenital hypothyroidism
10.3760/cma.j.issn.1673-4408.2024.11.008
- VernacularTitle:DUOX2基因突变与先天性甲状腺功能减退症患儿临床表型关系的研究进展
- Author:
Xifeng LEI
1
;
Yajie SU
;
Jinfeng HE
Author Information
1. 新疆医科大学，乌鲁木齐 830054
- Keywords:
DUOX2;
Gene mutation;
Congenital hypothyroidism
- From:
International Journal of Pediatrics
2024;51(11):753-757
- CountryChina
- Language:Chinese
-
Abstract:
Congenital hypothyroidism is one of the common endocrine disorders in newborns，which is mainly caused by thyroid dysgenesis or dyshormonogenesis.DUOX2 gene mutation is a common pathogenic gene of thyroid hormone production disorder，which mainly affects production the hydrogen peroxide needed for thyroid hormone synthesis.In recent years，there are some reports shown that differences in population and regional distribution of DUOX2 gene mutations，and the relationship between different types of mutations and clinical phenotypes is unclear.Compound heterozygous or homozygous mutations can cause severe inactivation of DUOX2 protein，but the clinical phenotypes may be transient CH.Although CH is considered to be a monogenic disorder，some cases have monoheterozygous disease or oligogenic coexistence，and the correlation between oligogenic coexistence to the clinical phenotypes is uncertain.This article provides a review for the structure and function of DUOX2 gene，the characteristics of population distribution and recent advances in the relationship between DUOX2 gene mutations and clinical phenotypes with CH.
