Thyroid Dyshormonogenesis 2A (TPO)
Thyroid dyshormonogenesis 2A is an autosomal recessive disorder caused by pathogenic variants in the gene TPO. Affected individuals develop severe congenital hypothyroidism due to a total iodide organification defect and recurrent goiter, and can also manifest cognitive and motor deficits if left untreated. When present at birth, the symptoms for this disorder are mild and difficult to diagnose. The life expectancy for affected individuals is normal if treated.
For information about carrier frequency and residual risk, please see the residual risk table.