Article
Clinical Outcomes of Congenital Hypothyroidism Due to DUOX2 Biallelic Mutations after Levothyroxine Withdrawal.
Thyroid : official journal of the American Thyroid Association - 1 Oct 2025
Sun Feng, Wan Jia-Ping, Zhang Na-Na, Nulali Jiayida, Fang Ya, Zhang Hai-Yang, Wu Chen-Yang, Wu Feng-Yao, Zhang Qian-Yue, Yang Rui-Meng, Li Rui, Li Lu, Han Bing, Li Xue-Song, Cheng Feng, Du Wen-Hua, Zhao Shuang-Xia, Song Huai-Dong
Abstract excerpt
Background: DUOX2 is a major cause of congenital hypothyroidism (CH) in Chinese patients, but clinical outcomes for those with biallelic DUOX2 mutations remain unclear. This study aimed to describe the clinical manifestations of CH due to DUOX2 defect. Methods: One hundred eighty-one patients with primary CH were recruited initially and were subjected to genetic screening. Patients with DUOX2 biallelic mutations...
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