증예(症例) : Pendred 증후군 1예 = Case Reports : A Case of Pendred`s syndrome

다국어 초록 (Multilingual Abstract)

Pendred syndrome is an autosomal recessive disorder characterized by goiter and congenital sensorineural deafness, and positive perchlorate discharge test. The sensorineural deafness is typically associated with a malformation of the inner ear, referred Mondini defect. The incidence of Pendred` syndrome is thought to be more than 7.5 to 10 in 100,000 individuals, and it has been estimated to account for about 10% of the cases with hereditary deafness. The thyroid function is usually normal, but the perchlorate discharge test is positive indicating an impaired iodide organification. In 1996, first reported that Pendred`s syndrome is linked to chromosome 7q22-31.1, and the Pendred`s syndrome gene(PDS gene) was cloned in 1997. The Predicted gene product, pendrin, is a highly hydrophobic, 780 amino-acid protein with 11 transmembrane domains that thought to be a sulfate or anion transporter. We experienced a case of Pendred`s syndrome diagnosed by the triad of congenital deafness, large goiter and positive perchlorate test, and reviewed related literatures.