Concurrence of Pendred syndrome, autoimmune thyroiditis, and simple goiterin one family

Pendred syndrome is the autosomal recessively transmitted association of fa milial goiter and congenital deafness. There is no specific biochemical mar ker of this disease, and the diagnosis depends upon the demonstration of th e triad of congenital sensorineural hearing loss, goiter, and abnormal perc hlorate discharge test. Pendred syndrome is caused by mutations within the putative ion transporter gene (PDS gene), located on chromosome 7q. A wide variation in the clinical presentation of this condition, and its well docu mented phenotypic overlap with other thyroid disorders (such as Hashimoto's thyroiditis), can lead to diagnostic difficulties. The potential for misdi agnosis increases when these disorders occur coincidentally in the same fam ily. We describe a kindred in which Pendred syndrome, autoimmune thyroiditi s, and simple goiter coexisted, to highlight these diagnostic pitfalls and to illustrate the use of mutational analysis in resolving diagnostic confus ion.