Resistance to Thyroid Hormone Caused by Heterozygous Mutation of Thyroid
Hormone Receptor B Gene c.G1378A Report of One Chinese Pedigree and
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.