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

Clinical Case Reports (Mar 2021)

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

Affiliations

Bingkun Huang: Department of Endocrinology and Diabetes The First Affiliated Hospital of Xiamen University Xiamen China
Changqin Liu: Department of Endocrinology and Diabetes The First Affiliated Hospital of Xiamen University Xiamen China
Fangsen Xiao: Department of Endocrinology and Diabetes The First Affiliated Hospital of Xiamen University Xiamen China
Peiying Huang: Department of Endocrinology and Diabetes The First Affiliated Hospital of Xiamen University Xiamen China
Jinyang Zeng: Department of Endocrinology and Diabetes The First Affiliated Hospital of Xiamen University Xiamen China
Zheng Chen: Department of Endocrinology and Diabetes The First Affiliated Hospital of Xiamen University Xiamen China
Mingzhu Lin: Department of Endocrinology and Diabetes The First Affiliated Hospital of Xiamen University Xiamen China
Xuejun Li: Department of Endocrinology and Diabetes The First Affiliated Hospital of Xiamen University Xiamen China

DOI: https://doi.org/10.1002/ccr3.3497
Journal volume & issue: Vol. 9, no. 3
pp. 1055 – 1059

Abstract

Read online

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

Published in Clinical Case Reports

ISSN: 2050-0904 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine: Medicine (General)
Website: https://onlinelibrary.wiley.com/journal/20500904

About the journal

Abstract

Keywords