loading page

Resistance to Thyroid Hormone Caused by Heterozygous Mutation of Thyroid Hormone Receptor B Gene c.G1378A Report of One Chinese Pedigree and Literature Review
  • +5
  • Bingkun Huang,
  • Changqin Liu,
  • Fangsen Xiao,
  • Peiying Huang,
  • Jinyang Zeng,
  • Zheng Chen,
  • Mingzhu Lin,
  • Xuejun Li
Bingkun Huang
Author Profile
Changqin Liu
Author Profile
Fangsen Xiao
Author Profile
Peiying Huang
Author Profile
Jinyang Zeng
Author Profile
Zheng Chen
Author Profile
Mingzhu Lin
Author Profile

Abstract

A 30-year-old female with clinical manifestations of palpitations and goiter was admitted to our department of endocrinology. Laboratory tests showed elevated thyroid hormone with non-suppressed TSH. Genetic analysis identified heterozygous mutation of the THRB exon10 c.G1378A (p.E460K). The proband’s kindreds had the same mutation, but their clinical manifestations were different.

Peer review status:UNDER REVIEW

18 Jun 2020Submitted to Clinical Case Reports
28 Jun 2020Assigned to Editor
28 Jun 2020Submission Checks Completed
08 Jul 2020Reviewer(s) Assigned
12 Jul 2020Review(s) Completed, Editorial Evaluation Pending