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Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism.

Hormone research in paediatrics - 1 Jan 2024

Zhang Hai-Yang, Wu Feng-Yao, Li Xue-Song, Zhang Cao-Xu, Tu Ping-Hui, Yang Rui-Meng, Liu Xiao-Yu, Cui Ren-Jie, Yang Liu, Wu Chen-Yang, Zhang Rui-Jia, Fang Ya, Sun Feng, Liang Jun, Cheng Feng, Song Huai-Dong, Zhao Shuang-Xia

Abstract excerpt

INTRODUCTION: Congenital hypothyroidism (CH), the most common neonatal endocrine disorder worldwide, can be caused by variants in the thyroid peroxidase (TPO) gene. This study aimed to identify TPO variants in Chinese patients with CH, analyze their impact on TPO function, and establish relationships between TPO genotypes and clinical characteristics. METHODS: A total of 328 patients with CH were screened for TPO...

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PMID: 37703865
DOI: 10.1159/000533969

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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