Journal of Rural Medicine
Online ISSN : 1880-4888
Print ISSN : 1880-487X
ISSN-L : 1880-487X
Case report
Pendred syndrome with hyperthyroidism
Yoshiro Kusano
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JOURNAL OPEN ACCESS

2020 Volume 15 Issue 4 Pages 217-220

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Abstract

Objectives: Pendred syndrome is an autosomal recessive disorder characterized by the combination of sensorineural deafness and goiter and is caused by biallelic mutations in the SLC26A4/PDS gene. Thyroid function is generally reported as euthyroid or hypothyroid in this condition. We present a case of Pendred syndrome with hyperthyroidism.

Patient: An 83-year-old woman with congenital deaf–mutism presented with complaints of nausea. She developed a large goiter and had hearing impairment. Her hearing level was 105 dB in both ears. She presented with hyperthyroidism and was treated with thiamazole.

Results: She had a homozygous mutation in c.1579A>C:p.T527P of the SLC26A4 gene, confirming a diagnosis of Pendred syndrome.

Conclusion: Pendred syndrome may develop into hyperthyroidism if the size of the goiter increases. Moreover, a homozygous mutation in c.1579A>C:p.T527P of the SLC26A4 gene, which was previously reported to be associated with nonsyndromic hearing loss with enlarged vestibular aqueduct, may also cause Pendred syndrome.

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© 2020 by THE JAPANESE ASSOCIATION OF RURAL MEDICINE
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