Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome?

[pendred syndrome]

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 .

Diseases
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Diseases presenting "goiter and iodide organification defect" symptom

pendred syndrome

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