A Case of Thyroid Hormone Resistance Syndrome with a Novel Mutation (c.947G>a) in the THRB Gene: Experience in Diagnosis and Treatment
The clinical manifestations of RTH lack specificity, and serological examination typically shows elevated thyroid hormone levels and unsuppressed thyrotropin levels. Differential diagnosis requires a combination of serological examination, imaging studies, and functional tests to distinguish RTH from other conditions. The purpose of this treatment is to improve symptoms and should not involve the blind administration of antithyroid drugs, thyroid surgery, or radiotherapy.
Authors
- Jie Liu (ORCID: https://orcid.org/0009-0004-7339-2401)
- Langen Zhuang (ORCID: https://orcid.org/0000-0003-3700-2715)
- Guoxi Jin (ORCID: https://orcid.org/0000-0002-2364-0364)
- Yu Wei (ORCID: https://orcid.org/0009-0008-8982-4183)
- Qiong Wang (ORCID: https://orcid.org/0000-0002-3465-4657)
- Lei Yu (ORCID: https://orcid.org/0000-0001-8773-731X)
- Li Yu (ORCID: https://orcid.org/0009-0005-3894-5610)
- Yanhui Zhu (ORCID: https://orcid.org/0000-0003-4908-886X)
- Xiaoyan Pei (ORCID: https://orcid.org/0000-0001-5613-8824)
Institutions
- First Affiliated Hospital of Bengbu Medical College (CN)
Publication Details
- Journal
- International Medical Case Reports Journal
- Published
- 2024-11-01
- DOI
- https://doi.org/10.2147/imcrj.s486498
- Primary Topic
- Thyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Bengbu Medical College