Endocrine Abstracts

BackgroundDUOXA2 mutations in patients with congenital hypothyroidism (CH) was first described in 2008 as rare cause of CH. mRNA of DUOXA2 is expressed predominantly in thyroid and less in salivary glands. Human DUOXA2 gene is located on 15q21.1 and inherited in an autosomal recessive pattern. In most cases DUOXA2 gene mutations were described in patients with thyroid dishormonogenesis. Last investigations conferred <e...