Pendred syndrome

Pendred syndrome or Pendred disease is a genetic disorder leading to bilateral (both sides) sensorineural hearing loss and goitre with occasional hypothyroidism. It inherits in an autosomal recessive manner. It may account for 1-10% of all inherited causes of deafness.

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It has been linked to mutations in the PDS gene, which codes for the pendrin protein (solute carrier family 26, member 4, SLC26A4). The gene is located on the long arm of chromosome 7 (7q31). Mutations in the same gene also cause enlarged vestibular aqueduct syndrome, another congenital cause of deafness.

Eponym

The disease is named after Dr Vaughan Pendred (1869-1946), the English general practitioner who first described the syndrome in 1896.^[1]

Diagnosis

The syndrome is diagnosed by:

• A family history of a similar condition;
• Thyroid hormones and TSH levels within normal range;
• FNAC;
• Chromosomal analysis;
• Abnormal perchlorate discharge test.^[2]

References