Thyroid Hormone Resistance Syndrome Caused by Heterozygous R338W Mutation in Thyroid Hormone Receptor β: Report of one Chinese Pedigree a in Southwest China

Tang K1#, Zhuang H1#, Liu R1, Chen Z1 and Li H1,2*

1Department of Endocrinology, The Affiliated Hospital of Guizhou Medical University, Guiyang, China
2Shanghai Jiao Tong University School of Medicine, Shanghai, China
#These authors contributed equally to this work

^*Correspondance to: Hong Li 

 PDF  Full Text Research Article | Open Access

Abstract:

A clinical investigation was conducted on a family of 10 members with thyroid hormone resistance syndrome, including the proband, and gene sequencing analysis was performed. The proband in this family has symptoms of hyperthyroidism such as heart palpitations, fear of heat, and hyperhidrosis. Genetic testing revealed a missense mutation in the 1012th base of exon 9 of the patient's THRβ gene from cytosine to thymine T, which resulted in a change in amino acid 338 from arginine to tryptophan (R338W). The patient's mother also had the same mutation, but other relatives of the patient did not find this mutation. This mutation is heterozygous and may lead to the synthesis of thyroid hormone resistance.

Keywords:

Cite the Article:

Tang K, Zhuang H, Liu R, Chen Z, Li H. Thyroid Hormone Resistance Syndrome Caused by Heterozygous R338W Mutation in Thyroid Hormone Receptor β: Report of one Chinese Pedigree a in Southwest China. Ann Clin Case Rep. 2022; 7: 2355..