J Korean Soc Endocrinol.
2004 Aug;19(4):411-418.
A Case of Follicular Thyroid Carcinoma Developed in Pendred Syndrome
- Affiliations
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- 1Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Korea.
- 2Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
Abstract
- Pendred syndrome is an autosomal recessive genetic disorder, which is characterized by sensorineural hearing loss, goiter and a positive perchlorate discharge test. It is caused by mutations of the PDS gene, and its clinical characteristics vary widely. The thyroid function in most cases is normal, or shows only mild hypothyroidism. In Pendred syndrome, there is an organification defect that leads to defective thyroid hormone synthesis, followed by chronic TSH stimulation. Herein is reported a case of a follicular thyroid carcinoma associated with Pendred syndrome. To our knowledge, this is the first case reported in Korea. The patient presented with a huge anterior neck mass, sensorineural hearing loss and a positive perchlorate discharge test. Fine needle aspiration cytology suggested malignancy of the thyroid, and a total thyroidectomy, with central compartment node dissection, was performed. The pathology from the thyroid mass showed a poorly differentiated follicular thyroid carcinoma
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