Senter syndrome

Senter syndrome is a rare genetic disorder characterized by pigmentation abnormalities, sensorineural hearing loss, and peripheral neuropathy. The syndrome is named after the researcher who first described it, Dr. Senter.

Symptoms and Signs

The primary symptoms of Senter syndrome include:

• Pigmentation abnormalities: These can range from hypopigmentation (reduced pigmentation) to hyperpigmentation (increased pigmentation), and can affect any part of the body.
• Sensorineural hearing loss: This is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).
• Peripheral neuropathy: This is a result of damage to the peripheral nerves, often causing weakness, numbness and pain, usually in the hands and feet.

Causes

Senter syndrome is caused by mutations in the MITF gene. This gene provides instructions for making a protein that plays a role in the development of several types of cells, including melanocytes (cells that produce the pigment melanin), osteoclasts (cells that break down bone), and mast cells (cells that play a role in the immune system).

Diagnosis

Diagnosis of Senter syndrome is based on the presence of the characteristic symptoms and confirmed by genetic testing showing a mutation in the MITF gene.

Treatment

There is currently no cure for Senter syndrome. Treatment is symptomatic and supportive, and may include hearing aids for sensorineural hearing loss and physical therapy for peripheral neuropathy.

See also

• Genetic disorder
• Sensorineural hearing loss
• Peripheral neuropathy

References

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