hrp0082p1-d1-235 | Thyroid | ESPE2014

A Nonsense Thyrotropin Receptor Gene Mutation (R609X) is Associated with Congenital Hypothyroidism and Heart Defects*

Cangul Hakan , Bas Veysel Nijat , Saglam Yaman , Kendall Michaela , Barrett Timothy G , Maher Eamonn R , Aycan Zehra

Background: Congenital hypothyroidism, one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns.Objective and hypotheses: Congenital hypothyroidism is most often caused by defects in thyroid development leading to thyroid dysgenesis. TSH receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with congenital hypothyroidism. In t...