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Clinical Note
June 2001

Long-term Audiological Feature in Pendred Syndrome Caused by PDS Mutation

Author Affiliations

From the Departments of Otolaryngology (Drs Iwasaki, Watanabe, and Hoshino) and Radiology (Dr Isoda), Hamamatsu University School of Medicine, Hamamatsu, Japan; Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan (Dr Usami); and Department of Otolaryngology, Hirosaki University School of Medicine, Hirosaki, Japan (Dr Abe).

Arch Otolaryngol Head Neck Surg. 2001;127(6):705-708. doi:10.1001/archotol.127.6.705

Pendred syndrome is an autosomal recessive disorder characterized by profound deafness in childhood and goiter. We report a case of Pendred syndrome in a 27-year-old woman who had a diffuse goiter and progressive sensorineural hearing loss with fluctuation and a missense mutation (His723Arg) in the PDS gene identified in a homozygous state. Audiological findings were observed clinically over a 20-year period. Progressive hearing loss with fluctuation occurred before age 12 years. An enlarged vestibular aqueduct with enlargement of the endolymphatic duct and sac was confirmed with 3-dimensional magnetic resonance imaging hydrography.

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