hrp0095p1-598 | Thyroid | ESPE2022

Retrospective analysis and literature review of five cases of thyroid hormone resistance syndrome caused by THRB gene mutation

Zhang Lidan , Zhang Caiping , Chen Xiaoyan , Ye Lei , Lu Wenli , Dong Zhiya , Wang Wei , Ma Xiaoyu , Xiao Yuan

Objective: To summarize the clinical characteristics, genetics and follow-up data of five children with thyroid hormone resistance syndrome (RTH) and review the related literatures.Methods: The clinical data of the five children diagnosed with RTH in our hospital from 2018 to 2020 were retrospectively analyzed. Next-generation sequencing of the candidate genes related to thyroid diseases was performed using the blood col...