Case Report |
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Siblings with Pendred s syndrome
Dr. Süleyman Büyükberber1, Dr. AdDan Hasanoğlu2, Dr. Servet Serbest1, . Abstract | | | |
Pendred's syndrome is characterised by congenital deafness and goiter and transmitted as an autosomal recessive disease. Thyroid dysfunction is related to an enzymatic defect in the organification of iodine. This defect can be detected found by perchlorate discharge test which is to be diagnostic. The deafness is due to a congenital Mondini type malformation of cochlea. In this report, we present three male siblings with Pendred's syndrome. [Journal of Turgut Ozal Medical Center 1996;3(3):220-222]
Key Words: Pendred's syndrome, thyroid
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