Primary congenital hypothyroidism (CH) is the most common endocrine disease in children
and one of the most common preventable causes of both cognitive and motor deficits. CH is …

Background: Congenital hypothyroidism (CH) is a frequent disease occurring with an
incidence of about 1/2500 newborns/year. In 80–85% of the cases CH is caused by …

Thyroglobulin (TG) defects due to TG gene mutations have an estimated incidence of
approximately 1 in 100,000 newborns. This dyshormonogenesis displays a wide phenotype …

Purpose Congenital primary hypothyroidism (CH) is a state of inadequate thyroid hormone
production detected at birth, caused either by absent, underdeveloped or ectopic thyroid …

The unfolded protein response (UPR) is an intracellular signaling pathway that regulates the
protein folding and processing capacity of the endoplasmic reticulum (ER). The UPR is …

Congenital hypothyroidism is mainly due to structural defects of the thyroid gland,
collectively known as thyroid dysgenesis. The two most prevalent forms of this condition are …

Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one
of the most common preventable causes of intellectual disability in the world. CH may be …

Recently molecular genetic defects in some cases of congenital hypothyroidism (CH) as well
as of rare cases of central hypothyroidism have been identified. These studies have led to …

Congenital hypothyroidism (CH) is one of the most common preventable causes of mental
retardation worldwide and has an estimated prevalence about 1 in 3000 to 1 in 4000 …

Congenital hypothyroidism affects about 1: 3000-1: 4000 infants. Screening programs now
permit early recognition and treatment, thus avoiding the disastrous consequences of thyroid …