ABSTRACT
Pendred syndrome is named for Vaughan Pendred, who in 1896 described two siblings who were both goitrous and deaf (1). In 1927, Brain reported 12 similarly affected individuals in five families, and suggested an autosomal recessive pattern of inheritance (2). The sensivity for detection of the thyroid phenotype was significantly increased with the introduction of the perchlorate discharge test by Morgans and Trotter in 1958 (3). Fraser subsequently published his landmark epidemiological study in which he described the clinical features of 207 U.K. families with 334 cases of Pendred syndrome (4). He estimated the prevalence at 7.5-10 cases per 100,000 population and indicated that Pendred syndrome may be responsible for up to 10% of hereditary hearing impairment. Subsequent epidemiological estimates based on clinical diagnosis in diverse ethnic populations confirm that the syndrome comprises approximately 4-10% of prelingual deafness (5).
