Thyroid Dyshormonogenesis 6 (DUOX2)

Thyroid dyshormonogenesis 6 is an autosomal recessive disorder caused by pathogenic variants in the gene DUOX2. Affected individuals manifest hypothyroidism and goiter, and if left untreated, may develop intellectual disability and experience slow growth. Affected infants may be asymptomatic or may present with lethargy, sleepiness, feeding difficulty, and constipation. While life expectancy for this disorder is normal, patients may have neurocognitive impairment. Heterozygous pathogenic variants in this gene have also been associated with a mild and transient autosomal dominant form of hypothyroidism in infancy.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):