A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism.

@article{Roux1996ANO,
  title={A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism.},
  author={Nicolas de Roux and Michel Polak and Jacques Couet and Juliane L{\'e}ger and Paul C Czernichow and Edwin Milgrom and Micheline Misrahi},
  journal={The Journal of clinical endocrinology and metabolism},
  year={1996},
  volume={81 6},
  pages={2023-6}
}
Until recently, neonatal hyperthyroidism has been considered to be related to the transplacental passage of thyroid-stimulating Ig present in the serum of the mother. We report here the case of a newborn who presented with severe hyperthyroidism, diffuse goiter, and important ocular signs (eyelid retraction and possibly proptosis). However, the absence of… CONTINUE READING