Basic & Clinical Medicine ›› 2009, Vol. 29 ›› Issue (9): 974-978.

• 研究论文 • Previous Articles     Next Articles

Thyroid hormone resistance with H435L mutation in exon 10 of thyroid hormone receptor gene associated with Hashimoto's thyroiditis

Xiao-lan LIAN, Min NIE, Yao BAI   

  1. Dept.of Endocrinology, PUMC hospital, CAMS & PUMC
  • Received:2009-07-02 Revised:2009-07-14 Online:2009-09-20 Published:2009-09-20
  • Contact: Xiao-lan LIAN,

Abstract: Objective To study mutations of thyroid hormone receptor β gene (TRβ) and clinical characteristics of a patient with resistance to thyroid hormone (RTH) associated with Hashimoto's thyroiditis (HT). Methods clinical manifestations were observed in a 7-year-old boy with RTH. Meantime, genomic DNA was extracted from peripheral blood of the patient and his parents. exons 5~10 of TRβ gene were amplified by PCR and sequenced directly. Results A heterozygote point mutation in exon 10 of TRβ was identified in the patient, which is a A to T transition in nucleotide 1403(c. 1304 A > T), resulting in His to Leu ( CAT→CTT) substituted at codon 435 ( H435L). No mutation was identified in the patient's parents. HT occurred in the patient during following-up. Conclusion H435L mutation in exon 10 of TRβ gene leads to resistance to thyroid hormone. Meanwhile, consistent RTH might lead to HT.

Key words: thyroid hormone receptor β gene, resistance to thyroid hormone, Hashimoto’s thyroiditis