Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.

@article{Mullem2013ClinicalPO,
  title={Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.},
  author={Alies A A van Mullem and Dionisios Chrysis and Alexandra Eythimiadou and Elizabeth Chroni and Agathocles Tsatsoulis and Yolanda B de Rijke and W. Edward Visser and Theo J. Visser and Robin Patrick Peeters},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2013},
  volume={98 7},
  pages={3029-38}
}
CONTEXT Recently the first patients with inactivating mutations in T₃ receptor (TR)-α1 have been identified. These patients have low free T₄, low T₄, high T₃, low rT₃, and normal TSH serum levels, in combination with growth retardation, delayed bone development, and constipation. OBJECTIVE The aim of the current study was to report the effects of… CONTINUE READING