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.
Iwasaki S, Usami S, Abe S, Isoda H, Watanabe T, Hoshino T. Long-term Audiological Feature in Pendred Syndrome Caused by PDS Mutation. Arch Otolaryngol Head Neck Surg. 2001;127(6):705-708. doi:10.1001/archotol.127.6.705