Advances and Perspectives in Genetics of Congenital Thyroid Disorders

HÉCTOR M. TARGOVNIK; CINTIA E. CITTERIO; SOFÍA SIFFO; CARINA M. RIVOLTA

Journal of Clinical and Molecular Endocrinology

iMed Pub LLC

Lugar: Londres; Año: 2016 vol. 1 p. 1 - 3

2254-609X

Congenital hypothyroidism (CH) is the most frequentendocrine disease in infants, affects about 1 in 3,000newborns and is characterized by elevated levels of thyroidstimulatinghormone (TSH) as a consequence of reducedthyroid function. It is also one of the most commonpreventable causes of cognitive and motor deficits. Preventionof CH is based on carrier identification, genetic counseling andprenatal diagnosis. In neonates a complete diagnosis of CHshould include clinical examination, biochemical thyroid tests,thyroid ultrasound, radioiodine or technetium scintigraphy andperchlorate discharge test (PDT). In the last two decades,considerable progress has been made in identifying thegenetic and molecular causes of CH. Knowing the prevalenceof mutations in each population will facilitate greatly themolecular genetic testing.