A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.

@article{Refetoff1996ANF,
  title={A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.},
  author={Samuel Refetoff and Venelin Marinov and H Tunca and Maria M. Byrne and Thongkun Sunthornthepvarakul and R E Weiss},
  journal={The Journal of clinical endocrinology and metabolism},
  year={1996},
  volume={81 9},
  pages={3335-40}
}
Serum transthyretin (TTR) is a protein of liver origin that under normal conditions transports approximately 20% T4. Missense mutations of the TTR gene produce familial amyloidotic polyneuropathy and rarely, euthyroid hyperthyroxinemia (EHT). Of the 3 TTR variants so far identified with increased affinity for T4, Ser6, Thr109, and Met119, only TTR-Thr109 has high enough affinity for T4 to produce consistent hyperthyroxinemia in the heterozygous individuals. Because the mutation GCC-->ACC in… CONTINUE READING

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