Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China.

Ting Zhang,Yaping Shen,Yanhua Xu,Dingwen Wu,Chi Chen,Rulai Yang

Clinica chimica acta; international journal of clinical chemistry（2023）

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摘要

Our study showed dyshormonogenesis (DH) might be the leading pathophysiology of CH in Chinese populations. DUOX2 gene mostly caused goiter, but also could be associated with hypoplasia. TPO might play a more irreplaceable role than DUOX2. The digenic variants combination indicated the complexity of genetic etiology in CH.

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congenital hypothyroidism,newborn screening,genotype-phenotype

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