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 …

Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and the
most common preventable cause of development delay and growth failure if diagnosed and …

Context: Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is a predominantly
sporadic and nonsyndromic (NS) condition of unknown etiology. NS-CHTD shows a 40-fold …

Primary congenital hypothyroidism (CH) is a common neonatal endocrine disorder
characterized by elevated concentrations of thyroid stimulating hormone (TSH) and low …

Background The molecular etiology and the genotype–phenotype correlation of congenital
hypothyroidism (CH) remain unclear. Methods We performed genetic analysis in 42 …

To assess how genomic information of the general population reflects probabilities of
developing diseases and the differences in those probabilities among ethnic groups, a …

Objective: Guidelines on congenital hypothyroidism (CH) recommend that genetic testing
should aim to improve diagnosis, treatment or prognosis, but it is unclear which patients …

Thyroglobulin (TG) is a large glycosylated protein of 2767 amino acids, secreted by the
thyrocytes into the follicular lumen. It plays an essential role in the process of thyroid …

Thyroid peroxidase (TPO) is a membrane-bound glycoprotein located at the apical side of
the thyroid follicular cells that catalyzes both iodination and coupling of iodotyrosine …

Background: Iodide transport defect is an uncommon cause of dyshormonogenic congenital
hypothyroidism due to homozygous or compound heterozygous pathogenic variants in the …