Pendred Syndrome: A Case Report

author

  • Parviz Moazami
Abstract:

In this article Pendred's syndrome, which is the combination of - congenital goitre with deafmutism, is discussed. This type of goitre is due to a special enzymatic defect, involving  a process of hormonogenesis, which is respon-· sible for the incorporation of iodide in the tyrosine molecule.  A case of pendred's syndrome is presented  in a 16-year-old girl. This girl has never been able to hear or speak, and has showed symp­toms of hypothyroidism since :the age of 13.  The perchlorate test which is diagnostic and Pathognomonic for the disorder of the iodi­nation phase of the thyroid hoi·mone synthesis, was performed on this girl. The test revealed a result that was characteristic of the Pendred's syndrome. In addttion an audiogramm test showed an inability to percieve high tones. 

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Journal title

volume 3  issue 3

pages  210- 216

publication date 1975-03

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