Pendred syndrome [3 genes]

Pendred syndrome is an autosomal recessive disorder characterized by congenital or early-onset bilateral sensorineural hypoacusis associated with goiter (often with normal or only mildly impaired thyroid function) and inner ear malformations, particularly enlarged vestibular aqueduct (EVA) and, in some cases, cochlear hypoplasia.

Population estimates have a yielded a frequency about 1:10,000–1:13,000 individuals, and it may account for up to ~10% of congenital hypoacusis cases.

Clinical-radiological and genetic confirmation allows performing comprehensive management (otorhinolaryngology and endocrinology), establishing thyroid monitoring, considering hearing rehabilitation (hearing aids/cochlear implants), and providing genetic counseling (risk of recurrence is 25% among the offspring of two carriers).

This service is indicated in the presence of congenital or early-onset bilateral sensorineural hypoacusis associated with goiter and/or EVA or other inner ear malformations on imaging, as well as in families with congenital hypoacusis and a history of goiter or thyroid dysfunction.