Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors?

@article{Hayashi1995DoCM,
  title={Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-beta receptors?},
  author={Yasuhide Hayashi and R E Weiss and David Sarne and Paul M Yen and Thongkun Sunthornthepvarakul and Claudio Marcocci and William Wei Lim Chin and Samuel Refetoff},
  journal={The Journal of clinical endocrinology and metabolism},
  year={1995},
  volume={80 11},
  pages={3246-56}
}
Resistance to thyroid hormone (RTH), a syndrome characterized by variable tissue hyposensitivity to thyroid hormone, is linked to mutations in the thyroid hormone receptor-beta (TR beta) gene. The purpose of this study was to determine whether the clinical phenotypes of RTH can be translated in terms of functional impairment of the corresponding mutant TR beta. Data from 124 subjects with RTH representing 18 different mutant TR beta s, showed that serum free T4 levels correlated with the degree… CONTINUE READING