Pendred's syndrome

Pendred's syndrome is a rare autosomal recessive condition characterised by incomplete oxidation of trapped iodide prior to organification.

Hearing loss typically presents congenitally or in early childhood, though progression may occur later, sometimes following acoustic or physical trauma. Thyroid enlargement, or goitre, often emerges during late childhood or adolescence and may occur even in the absence of abnormal thyroid hormone levels.

Pendred’s syndrome accounts for a significant proportion of syndromic congenital deafness, estimated at 7% to 15%, and diagnosis may require genetic testing, a positive perchlorate discharge test, audiometric evaluation, thyroid imaging, and assessment of inner ear malformations such as an enlarged vestibular aqueduct.

Reference

1. Pearce JM. Pendred's syndrome. Eur Neurol. 2007;58(3):189-90