Monogenic mutations and congenital hypothyroidism / 国际儿科学杂志
International Journal of Pediatrics
;
(6): 406-409, 2022.
Article
in Chinese
| WPRIM
| ID: wpr-954048
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
International Journal of Pediatrics
Year:
2022
Type:
Article
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