Pendred syndrome with hyperthyroidism.
J Rural Med
; 15(4): 217-220, 2020 Oct.
Article
en En
| MEDLINE
| ID: mdl-33033545
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
J Rural Med
Año:
2020
Tipo del documento:
Article
País de afiliación:
Japón