A Case of Congenital Sensorineural Hearing Loss with Multinodular Goiter / 대한이비인후과학회지
Korean Journal of Otolaryngology - Head and Neck Surgery
; : 535-538, 2005.
Article
em Ko
| WPRIM
| ID: wpr-652641
Biblioteca responsável:
WPRO
ABSTRACT
Pendred syndrome is an autosomal recessive condition classically characterized by congenital deafness and goiter, and is the most common cause of hereditary deafness in Korea. It is caused by mutations in the PDS gene (SLC26A4) located in 7q31. The PDS gene encodes a chloride-iodide transport protein called pendrin, which plays a role in the reabsorption of endolymph and the maintenance of the endolymph homeostasis in the inner ear and in the uptake and organification of iodide in the thyroid gland. A mutation in PDS also causes non-syndromic recessive deafness (DFNB4) and therefore securing the diagnosis is important for genetic counseling purposes. The perchlorate discharge test and radiological conformation of the inner ear anomaly are useful diagnostic aids but have limited diagnostic value. However, because PDS mutations are widely distributed along the gene, it consumes too much time and money to perform molecular studies in clinics. We present a case of congenital sensorineural hearing loss with multinodular goiter, which shows definite findings of Pendred syndrome.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Glândula Tireoide
/
Aqueduto Vestibular
/
Surdez
/
Diagnóstico
/
Endolinfa
/
Aconselhamento Genético
/
Bócio
/
Perda Auditiva Neurossensorial
/
Homeostase
/
Coreia (Geográfico)
Tipo de estudo:
Diagnostic_studies
País/Região como assunto:
Asia
Idioma:
Ko
Revista:
Korean Journal of Otolaryngology - Head and Neck Surgery
Ano de publicação:
2005
Tipo de documento:
Article