Pendred syndrome with hyperthyroidism / Journal of Rural Medicine
Journal of Rural Medicine
;
: 217-220, 2020.
Article
in English
| WPRIM
| ID: wpr-829816
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>Cp.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>Cp.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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Index:
WPRIM (Western Pacific)
Language:
English
Journal:
Journal of Rural Medicine
Year:
2020
Type:
Article
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