Abstract
BACKGROUND: Pendred syndrome (PS) is an autosomal recessive disorder, caused by biallelic mutations in the SLC26A4 gene which codes for the pendrin protein. It is characterized by sensorineural hearing loss associated with dyshormonogenic goiter. Which is a common cause of congenital deafness. CASE PRESENTATION: Hereby we describe a case of a 21- year-old women who presented to the ORL department with an anterior cervical mass that gradually increased in volume over 3 years associated with severe hearing loss since birth for which the patient was provided with hearing aids. Pendred syndrome is suspected because of the present of goiter and congenital hearing loss. CONCLUSIONS: Clinical presentation is very variable. However, the association of goiter and progressive deafness suggests the diagnosis of Pendred syndrome.
Highlights
Pendred syndrome is described for the first time by Vaughan Pendred in 1896; it’s an autosomal recessive disorder, characterized by sensorineural hearing loss associated with dyshormonogenic goiter [1]
It is caused by mutations in the Pendred Syndrome (PDS) gene (SLC26A4), encoding Pendrin: a protein expressed in the inner, thyroid and kidney [2]
This syndrome is the result of biallelic mutations in the Pendrin gene (PDS/SLC26A4) on chromosome 7q31, who codes for pendrin, a multifunctional protein whose expression has been documented in the inner ear, the thyroid and the kidney, in a few other organs [2, 5]
Summary
Pendred syndrome is described for the first time by Vaughan Pendred in 1896; it’s an autosomal recessive disorder, characterized by sensorineural hearing loss associated with dyshormonogenic goiter [1] It is caused by mutations in the Pendred Syndrome (PDS) gene (SLC26A4), encoding Pendrin (multifunctional anion transporter): a protein expressed in the inner, thyroid and kidney [2]. We report a case of a 21-year-old patient who presented to the ORL department for goiter, in whom the diagnosis of Pendred syndrome is suspected because of the present of goiter and congenital hearing loss. We describe this case to raise awareness of this pathology and for better therapeutic management
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