Neuro-otological findings in Pendred syndrome

Area of Science:

• Genetics and Audiology
• Otolaryngology
• Endocrinology

Background:

• Pendred syndrome is an autosomal recessive disorder.
• It is characterized by profound hearing impairment and abnormal thyroid iodine release.
• Previous studies highlight hearing loss and thyroid dysfunction, but vestibular and structural findings require further elucidation.

Purpose of the Study:

• To investigate audiological, vestibular, and radiological findings in Pendred syndrome.
• To correlate structural abnormalities with clinical manifestations, particularly progressive hearing loss.
• To analyze the variability of vestibular function within families and its relation to labyrinthine malformations.

Main Methods:

• Studied 33 cases from 13 families and 8 isolated cases.
• Conducted detailed audiological and vestibular investigations.
• Performed computerized tomography (CT) scans for structural analysis.

Main Results:

• All patients exhibited profound, symmetrical sensorineural hearing loss.
• Ninety percent of scanned cases showed dilated vestibular aqueducts; this correlated with progressive hearing loss.
• Vestibular function varied, with normal, unilateral peripheral deficit, or bilateral hypofunction observed; no familial concordance or correlation with structural anomalies was found.

Conclusions:

• Pendred syndrome is consistently associated with profound, symmetrical sensorineural hearing loss.
• Dilated vestibular aqueducts are a frequent finding, particularly in cases with progressive hearing impairment.
• Vestibular abnormalities are common but heterogeneous and not directly correlated with inner ear malformations or familial patterns.