Resistance to Thyroid Hormone Alpha in an 18-Month-Old Girl: Clinical, Therapeutic, and Molecular Characteristics.

@article{Gucht2016ResistanceTT,
  title={Resistance to Thyroid Hormone Alpha in an 18-Month-Old Girl: Clinical, Therapeutic, and Molecular Characteristics.},
  author={Anja L. M. van Gucht and Marcel E. Meima and Nitash Zwaveling-Soonawala and Willem Edward Visser and Eric Fliers and Johanna M. B. Wennink and Civile Henny and Theo J. Visser and Robin Patrick Peeters and A S Paul van Trotsenburg},
  journal={Thyroid : official journal of the American Thyroid Association},
  year={2016},
  volume={26 3},
  pages={338-46}
}
BACKGROUND Recently, the first patients with resistance to thyroid hormone alpha (RTHα) due to inactivating mutations in the thyroid hormone receptor alpha (TRα) were identified. These patients are characterized by growth retardation, variable motor and cognitive defects, macrocephaly, and abnormal thyroid function tests. The objective was to characterize a young girl (18 months old) with a mutation in both TRα1 and TRα2, and to study the effects of early levothyroxine (LT4) treatment… CONTINUE READING
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