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Long-term Audiological Feature in Pendred Syndrome Caused by PDS Mutation
Satoshi Iwasaki, MD;
Shin-ichi Usami, MD;
Satoko Abe, MD;
Haruo Isoda, MD;
Takahiro Watanabe, MD;
Tomoyuki Hoshino, MD
Arch Otolaryngol Head Neck Surg. 2001;127:705-708.
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.
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).
Corresponding author and reprints: Satoshi Iwasaki, MD, Department
of Otolaryngology, Hamamatsu University School of Medicine, 3600 Handa-cho,
Hamamatsu, 431-3192 Japan (e-mail: iwasaki{at}hama-med.ac.jp).
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Intrafamilial Variability of the Deafness and Goiter Phenotype in Pendred Syndrome Caused by a T416P Mutation in the SLC26A4 Gene
Napiontek et al.
J. Clin. Endocrinol. Metab. 2004;89:5347-5351.
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