thyroid dyshormonogenesis 2A

A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3.

Signs and symptoms

• Decreased circulating T4 concentration
• Thyroid defect in oxidation and organification of iodide
• Hypothyroidism
• Goiter

Also known as: TDH2A; genetic defect in thyroid hormonogenesis 2A; iodide peroxidase deficiency; thyroid peroxidase deficiency