Monogenic mutations and congenital hypothyroidism
10.3760/cma.j.issn.1673-4408.2022.06.012
- VernacularTitle:单基因突变与先天性甲状腺功能减退症
- Author:
Wendi HUANG
1
;
Yujuan ZHAO
Author Information
1. 西安市儿童医院新生儿科 710003
- Keywords:
Congenital hypothyroidism;
Neonate;
Gene
- From:
International Journal of Pediatrics
2022;49(6):406-409
- CountryChina
- Language:Chinese
-
Abstract:
Congenital hypothyroidism usually has no specific clinical symptoms in the neonatal period, which can be detected early through newborn screening, and early thyroid hormone replacement therapy can improve the prognosis.Congenital hypothyroidism is associated with the thyroid hypoplasia, thyroid hormone synthesis disorder, low response of thyroid or target organs and central hypothyroidism.With the development of genomics and second-generation gene sequencing, more and more monogenic mutations have been reported to be associated with this disease.The review of CH caused by monogenic mutation is aimed at comprehensively assessing the condition of neonates with CH, providing individualized treatment, guiding long-term follow-up and improving prognosis.
