Definition:
Pendred syndrome is otherwise called Pendred disease. This is a disorder, which is genetic in nature that leads to sensorineural hearing loss involving both ears and goitre occationally accompanied with hypothyroidism. Pendred syndrome has been associated to mutations specifically in the PDS gene which is responsible for coding of the pendrin protein.
Diagnosis:
Pendred syndrome is diagnosed by taking down the family history if there are case of a similar condition along the bloodline, testing for thyroid hormones as well as checking the TSH levels if they are within the normal range, FNAC, analysis of the chromosomes, and testing for abnormal perchlorate discharges.
Treatment:
Treatment for Pendred syndrome is only symptomatic so it just corrects the deafness of the patient but not necessarily addressing the root cause.
Symptoms and Signs:
The most common symptom for pendred syndrome is deafness.
Causes:
Pendred syndrome is believed to be caused by an abnormal mutations of the gene which is responsible for coding the pendrin protein. It is genetic in nature so it is most likely inherited recessively.
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