Abstract
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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Arginine / genetics
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Biological Transport / genetics
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Carrier Proteins / genetics*
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Chromosomes, Human, Pair 7
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DNA Mutational Analysis
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Disease Progression
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Evoked Potentials, Auditory, Brain Stem
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Female
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Goiter / genetics*
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Hearing Loss, Sensorineural / genetics*
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Histidine / genetics
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Humans
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Magnetic Resonance Imaging
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Membrane Transport Proteins*
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Mutation, Missense*
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Sulfate Transporters
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Syndrome
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Time Factors
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Vestibular Aqueduct / pathology
Substances
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Carrier Proteins
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Membrane Transport Proteins
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SLC26A4 protein, human
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Sulfate Transporters
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Histidine
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Arginine