Abstract
We herein report of patient with a point mutation at the mitochondrial DNA position 3243, in whom a functional hearing loss persisted from childhood. A 20-year-old female visited us with the chief complaints of a hearing impairment and tinnitus. Pure tone audiometry showed a sensorineural hearing loss and her hearing level was 107dB for the right ear and 77dB for the left ear. Afterher marriage, she experienced insomnia and appetite loss and she was diagnosed to be in a depressive state. Treatment for depression improved her tinnitus and hearing impairment. Since her family history indicated hereditary features of deafness, a genetic analysis was performed. Her mitochondrial DNA had an A to G point mutation at nucleotide 3243. An auditory brainstem response was performed to assess her objective hearing level because of inconsistent fluctuations in both her hearing level and subjective hearing. The test showed that her objective hearing level was normal, and she was therefore diagnosed to have a functional hearing loss. We speculate that psychiatric symptoms related to the mitochondrial DNA 3243 point mutation might thus have resulted in the expression of a functional disorder.
