Advances in genetic research of congenital hypothyroidism in China

CHEN Xiao-Yu; QIN Xiao-Song

doi:10.7499/j.issn.1008-8830.2018.03.015

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Chinese Journal of Contemporary Pediatrics ›› 2018, Vol. 20 ›› Issue (3) : 243-250. DOI: 10.7499/j.issn.1008-8830.2018.03.015

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Advances in genetic research of congenital hypothyroidism in China

CHEN Xiao-Yu, QIN Xiao-Song

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Abstract

Congenital hypothyroidism (CH), which results from insufficient thyroid hormone biosynthesis, is one of the most common neonatal endocrine disorders. Thyroid dysgenesis and thyroid dyshormonogenesis are the two causes of CH and either one will lead to deficiencies of enzymes during thyroid hormone biosynthesis and insufficient thyroid hormone biosynthesis. Recently, researchers have performed extensive studies on genetics of CH. This paper reviews genes reported to be associated with CH in China.

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Congenital hypothyroidism / Genotype / Phenotype / Child

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CHEN Xiao-Yu, QIN Xiao-Song. Advances in genetic research of congenital hypothyroidism in China[J]. Chinese Journal of Contemporary Pediatrics. 2018, 20(3): 243-250 https://doi.org/10.7499/j.issn.1008-8830.2018.03.015

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