Goitre and hearing impairment in a patient with Pendred syndrome

被引：0
|
作者：
Arwert, L. I. [1 ]
Sepers, J. M. [1 ]
机构：
[1] Med Ctr Alkmaar, Dept Internal Med & Endocrinol, NL-1815 JD Alkmaar, Netherlands
来源：
NETHERLANDS JOURNAL OF MEDICINE | 2008年 / 66卷 / 03期
关键词：
deafness; goitre; Pendred syndrome; thyroid dysfunction;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
A case is described here of a young euthyroid woman with a goitre and hearing impairment. Perchlorate discharge test showed increased washout of iodine. Genetic analysis confirmed the diagnosis of Pendred syndrome as a mutation in the Pds gene was found. The patient was treated with potassium iodine orally. During follow-up there where no symptoms of hyperthyroidism and the size of the goitre decreased.
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页码：118 / 120
页数：3
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