Pendred syndrome

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What is Pendred syndrome? .
Pendred syndrome is an uncommon genetic disease in children. Patients usually have hearing loss in both ears (often at birth) and a goiter, which is an enlarged thyroid gland in the neck. The goiter typically grows in the teenage years but may present earlier or later. Pendred syndrome is caused by the lack of a protein called pendrin, which is important in the kidney, ear and thyroid to keep salt levels balanced. Without enough pendrin, the ion levels become unbalanced and cause hearing and balance issues, a swollen thyroid and less commonly electrolyte imbalances. There is no specific treatment, but the symptoms can be managed with thyroid hormone supplements and hearing aids.
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Pub: 31 Mar 2024 17:18 UTC

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