Resistance to thyroid hormone caused by heterozygous mutation of thyroid hormone receptor B gene c.G1378A: Report of one Chinese pedigree and literature review

Bingkun Huang; Changqin Liu; Fangsen Xiao; Peiying Huang; Jinyang Zeng; Zheng Chen; Mingzhu Lin; Xuejun Li

doi:10.1002/ccr3.3497

Resistance to thyroid hormone caused by heterozygous mutation of thyroid hormone receptor B gene c.G1378A: Report of one Chinese pedigree and literature review

Clin Case Rep. 2021 Feb 8;9(3):1055-1059. doi: 10.1002/ccr3.3497. eCollection 2021 Mar.

Authors

Bingkun Huang^{1

2

3}, Changqin Liu^{1

2

3}, Fangsen Xiao^{1

2

3}, Peiying Huang^{1

2

3}, Jinyang Zeng^{1

2

3}, Zheng Chen^{1

2

3}, Mingzhu Lin^{1

2

3

4}, Xuejun Li^{1

2

3

4}

Affiliations

¹ Department of Endocrinology and Diabetes The First Affiliated Hospital of Xiamen University Xiamen China.
² Xiamen Clinical Medical Center for Endocrine and Metabolic Diseases The First Affiliated Hospital of Xiamen University Xiamen China.
³ Fujian Province Key Laboratory of Diabetes Translational Medicine Xiamen China.
⁴ Xiamen Diabetes Institute Xiamen China.

Abstract

The same thyroid hormone receptor B gene (THRB) mutation led to thyroid hormone resistance with different clinical manifestations in the kindreds.

Keywords: mutation; resistance to thyroid hormone; thyroid hormone receptor B.

Publication types

Case Reports