Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor

Compound heterozygosity for a novel hemi

Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism

✍ Candice Hoste; Sabrina Rigutto; Guy Van Vliet; Françoise Miot; Xavier De Deken 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 352 KB

Dual oxidases (DUOX) 1 and 2 are components of the thyroid H 2 O 2 -generating system. H 2 O 2 is used by thyroperoxidase to oxidize iodide for thyroid hormonogenesis. Mutations in the DUOX2 gene have been described in transient and permanent congenital thyroid dyshormonogenesis. We report here a no