Thyroid Dyshormonogenesis 5 (DUOXA2)
Thyroid dyshormonogenesis 5 is an autosomal recessive disorder caused by pathogenic variants in the gene DUOXA2. This endocrine disorder has neonatal onset and is characterized by hypothyroidism, goiter, and variable mental deficits, with affected children displaying failure to thrive, poor feeding, and decreased physical and mental activity. The life expectancy for this disorder is normal when diagnosed and treated early, however delayed treatment in neonates can lead to irreversible complications.
For information about carrier frequency and residual risk, please see the residual risk table.