Endocrinologia e Síndrome Metabólica
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Resistance to Thyroid Hormone Caused by a G344R Mutation of Thyroid Hormone Receptor Beta Gene: A Case Report Study

Wenli Yang, Jie Yan and Yanmei Sang

Background: Resistance to thyroid hormone (RTH), is a rare genetic disease. The aim of this research is to study a pediatric case of resistance to thyroid hormone (RTH) and its clinical manifestation. Methods: An infant demonstrating resistance to thyroid hormone (RTH) and her parents were subjected to THRB gene analysis by PCR amplification of peripheral blood DNA. The sequences were aligned and compared. Results: A heterozygous mutation, c.1030G>C, was found in exon 10 of THRB gene resulting in an amino acid substitution, G344R, in the encoded protein. Conclusion: In Chinese children, a heterozygous mutation of c.1030G>C in THRB gene may cause RTHS.