The Pendred syndrome occurs rarely in children. It is usually associated with hearing loss in both ears (often at birth) and goiter, an enlarged thyroid gland in the neck. Over time, their hearing will usually deteriorate. Goiters typically develop in the teenage years but may appear earlier or later. Pendred syndrome results from a lack of pendrin, a protein that keeps salt levels balanced in the kidney, ear, and thyroid.
Children's thyroids play an important role in growth and development. Even if their thyroid is affected, Pendred syndrome children rarely experience problems with growth and development.
Pendred syndrome is characterized by the following symptoms:
In about 50% of patients with Pendred syndrome, the cause is mutations (changes) in three genes (SLC26A4, FOXI1, or KCNJ10), while in the other half, the cause is unknown. Mutations in SLC26A4 (also known as PDS), which encodes the pendrin protein, are most commonly associated with Pendred syndrome.
A possible 7.5% of congenital hearing loss cases are due to PDS, although the precise prevalence is unknown.
It affects approximately 2-3 children per 1,000.
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