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

ABSTRACT:

Background

To summarize the clinical characteristics, genetics and follow-up data of four children with thyroid hormone resistance (RTH) syndrome and review the related literatures.

Methods

The clinical data of the four children diagnosed with RTH syndrome 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 collected from all the children and their parents who signed an informed consent. Then, relevant cases were retrieved on medical literature databases for analysis and summary.

Results

Among the four cases, three cases of goiter; two cases of tachycardia, palpitations, personality change, hyperactivity, weight loss; one case of academic performanc

SUBMITTER: Zhang L 

PROVIDER: S-EPMC9732597 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature