Congenital hypothyroidism is a common preventable cause of mental retardation. The
overall incidence is approximately 1: 4000; females are affected about twice as often as …

Background Several genetic defects are associated with permanent congenital
hypothyroidism. Immunologic, environmental, and iatrogenic (but not genetic) factors are …

Congenital hypothyroidism. Congenital hypothyroidism. Citation Rovet, J. (1995). Congenital
hypothyroidism. In BP Rourke (Ed.), Syndrome of nonverbal learning disabilities …

Context: Thyroglobulin (TG) is a large glycoprotein and functions as a matrix for thyroid
hormone synthesis. TG gene mutations give rise to goitrous congenital hypothyroidism (CH) …

The rdw rat is a hereditary hypothyroid variant initially derived from the Wistar-Imamichi
strain. Proteome analysis by two-dimensional gelelectrophoresis showed that molecular …

Context: Gene mutations of transcription factors that are predominantly expressed in the
thyroid gland cause congenital hypothyroidism (CH). The prevalence of CH due to …

Mutations in the thyroglobulin (TG) gene have been reported to cause congenital
hypothyroidism (CH) and we have been investigating the genetic architecture of CH in a …

In many instances, the pathophysiology of thyroid dysgenesis (TD) remains as yet unclear
and until relatively recently the disorder was usually regarded as occurring in a sporadic …

Thyroid hormone synthesis requires a normally developed thyroid gland, a properly
functioning hypothalamic-pituitary-thyroid axis, and sufficient iodine intake. This article …

Objective It is suggested that iodide organification defects account for 10% of all cases with
congenital hypothyroidism (CH). One candidate gene for these defects is the thyroid …