[Familial congenital hypothyroidism due to loss of function mutation of the thyrotropin receptor (resistance to thyrotropin)].

The TSH receptor belongs to a subfamily of G protein-coupled receptors that mediates the effect of TSH in thyroid development and hormone synthesis. Similarly to many other G protein--coupled receptors, both gain and loss of function mutations have been found in the TSH receptor. Loss of function mutations in the TSH receptor gene were first described in… (More)