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Long-term audiological feature in Pendred syndrome caused by PDS mutation
1Department of Otolaryngology, Hamamatsu University School of Medicine, 3600 Handa-cho, Hamamatsu, 431-3192 Japan. iwasaki@hama-med.ac.jp
Archives of Otolaryngology--Head & Neck Surgery
|June 19, 2001
Summary
Pendred syndrome, an autosomal recessive disorder, causes childhood deafness and goiter. This case highlights a PDS gene mutation in a woman with progressive hearing loss and goiter, confirmed by imaging.
Area of Science:
- Genetics
- Otolaryngology
- Endocrinology
Background:
- Pendred syndrome is an inherited disorder.
- It is characterized by sensorineural hearing loss and thyroid goiter.
- The condition follows an autosomal recessive inheritance pattern.
Observation:
- A 27-year-old woman presented with diffuse goiter.
- She experienced progressive, fluctuating sensorineural hearing loss starting before age 12.
- Clinical audiological monitoring spanned 20 years.
Findings:
- A homozygous missense mutation (His723Arg) in the PDS gene was identified.
- 3D MRI hydrography confirmed enlarged vestibular aqueduct and endolymphatic sac.
- Audiological findings were consistent with Pendred syndrome.
Implications:
- This case expands the understanding of Pendred syndrome phenotypes.
- Genetic and imaging findings are crucial for diagnosis.
- Further research into PDS gene mutations may reveal therapeutic targets.