What is Pendred syndrome?

Updated: Mar 03, 2021
  • Author: Philip R Orlander, MD, FACP; Chief Editor: George T Griffing, MD  more...
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Syndromic forms of hypothyroidism are also well described. Pendred syndrome is caused by a mutation in the SLC26A4 gene, which causes a defect in the organification of iodine (ie, incorporation into thyroid hormone), congenital sensorineural hearing loss, and, usually, an enlarged thyroid gland. It is inherited in an autosomal recessive manner. [20]

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