Congenital hypothyroidism in Argentinian Children: Clinical, Genetic and Bioinformatic Analysis

PATRICIA PAPENDIECK; EZEQUIELA ADROVER; MARICEL MOLINA; VIVIANA A. BALBI; GABRIELA SOBRERO

Buenos Aires

Congreso; V INTERNATIONAL CONGRESS IN TRANSLATIONAL MEDICINE; 2021

Primary congenital hypothyroidism (CH) with a prevalence of 1:2000-3000 live birthsis the most common endocrine disease in children associated with preventable cognitive and motordeficits. CH is a heterogeneous group of thyroid disorders related to an inadequate production of thyroidhormone due to defects in the thyroid gland developement or dysembryogenesis (80-85%) or in thyroidhormone biosynthesis or dyshormonogenesis (TDH) (15-20%). Iodide organification defects (IOD) are asubgroup of TDH and are related to defects in thyroid peroxidase (TPO) and dual oxidase 2 (DUOX2)genes mainly.