New Insights into Thyroglobulin Pathophysiology Revealed by the Study of a Family with Congenital Goiter

Thyroglobulin (TG) gene mutations cause congenital hypothyroidism (CH) with goiter. A founder effect has been proposed for some frequent mutations. Mutated proteins have a defect in intracellular transport causing intracellular retention with ultrastructural changes that resemble an endoplasmic reticulum storage disease.To reveal new aspects of thyroglobulin pathophysiology through clinical, cellular, molecular, and genetic studies in a family...