Endocrine Abstracts

Pendred syndrome (PS) is an autosomal, recessive disorder characterized by sensorineural deafness, goiter, and a positive perchlorate test. PS, one of the most common forms of syndromic deafness, is caused by biallelic mutations in the SLC26A4 gene, which encodes the anion transporter pendrin. Functionally, pendrin can serve as an exchanger of several anions including chloride, bicarbonate and iodide. Pendrin is expressed in the inner ear, the thyroid and the kidney.</p...