OBJECTIVE One of the thyroid-specific transcription factors, thyroid transcription factor-2 (TTF-2), performs a crucial role in the development of the thyroid gland. We performed genetic analysis of the TITF2 gene (encoding TTF-2) in patients with thyroid dysgenesis. METHODS By direct sequencing of the PCR products of TITF2, we screened the genomic DNA from 46 patients with thyroid dysgenesis...

OBJECTIVE Based on mutations in PAX8 is associated with thyroid dysgenesis. We aim to identify and characterize PAX8 mutations in a large cohort of congenital hypothyroidism(CH) from thyroid dysgenesis in Chinese population. METHODS We screened 453 unrelated Chinese patients with CH from thyroid dysgenesis for PAX8 mutations by sequencing the whole coding regions of PAX8 on genomic DNA isolat...

Congenital hypothyroidism (CH) occurs in 1 in 3000– 4000 newborns. Early diagnosis and therapy are absolutely critical because, when untreated, hypothyroid subjects develop severe and irreversible mental retardation. Thyroid dysgenesis (agenesis, ectopic location or hypoplasia) is the most common cause of CH. Tissue-specific transcription factors play a major role in organogenesis and cell diff...

Congenital hypothyroidism (CH) is the most frequent endocrine disease in infants, affects about 1 in 3,000 newborns and is characterized by elevated levels of thyroidstimulating hormone (TSH) as a consequence of reduced thyroid function. It is also one of the most common preventable causes of cognitive and motor deficits. Prevention of CH is based on carrier identification, genetic counseling a...

Thyroid dysgenesis is the major cause of congenital hypothyroidism in humans. The underlying molecular mechanism is in most cases unknown, but the frequent co-incidence of cardiac anomalies suggests that the thyroid morphogenetic process may depend on proper cardiovascular development. The T-box transcription factor TBX1, which is the most probable gene for the 22q11 deletion syndrome (22q11DS/...

The thyroid gland is composed of two lobes connected by an isthmus that traverses the midline upper trachea between second and third tracheal rings. most common manifestation dysgenesis hemi agenesis or ectopic tissue. Specifically, incidence rate ranges 0.5 10%. Remember identification other anomalies during preoperative evaluation patients scheduled for surgery would significantly contribute ...