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

Abstract excerpt

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 three siblings with resistance to TSH in 1995. To date, 13...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Hypothyroidism
• Share to Mutation
• Share to Receptors, Thyrotropin