Pendred syndrome (PDS) is an autosomal recessive disorder characterized by 
congenital deafness, goiter and iodide organification defect. Presence of inner 
ear malformations is essential for the clinical diagnosis. Most individuals with 
PDS are clinically and biochemically euthyroid. Mutations in the PDS gene 
encoding pendrin protein have been shown to be associated with PDS. It has been 
recently demonstrated that some families with features of PDS do not have the 
inner ear malformations and mutations in the PDS gene. This condition has been 
named as "pseudo-Pendred syndrome" (pseudo-PDS), and has been hypothesized to be 
of autoimmune origin. Here we report four siblings who have goiter, severe 
hypothyroidism, a positive perchlorate discharge test and sensorineural 
deafness, but not the inner ear abnormality which is diagnostic for PDS. We 
suggest that thyroid peroxidase (TPO) gene should be analyzed in pseudo-PDS 
patients with congenital goitrous hypothyroidism and deafness.