Pendred syndrome

Pendred syndrome is a genetic disorder that most often causes hearing loss in both ears and a thyroid gland enlargement known as a goiter. People with this condition may have a range of severity in symptoms due to its variable clinical presentation. The condition is usually identified by its key features: bilateral sensorineural hearing loss and a euthyroid goiter, meaning the thyroid gland is enlarged but functions normally. The syndrome is one of several conditions that affect the thyroid and hearing, and its presentation may differ from one individual to another.

People with Pendred syndrome typically experience bilateral sensorineural hearing loss, which means that both ears are affected by damage to the nerves responsible for hearing. Additionally, many individuals develop a goiter, an enlargement of the thyroid gland, even though thyroid hormone levels often remain normal.

Pendred syndrome is a genetic disorder, and changes in the SLC26A4 gene have been linked to this condition. The disorder is inherited in an autosomal recessive manner, which means that a child must receive a copy of the mutated gene from each parent to develop the syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.