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
Validation

Diseases presenting "hypothyroidism" symptom

22q11.2 deletion syndrome

acute rheumatic fever

adrenomyeloneuropathy

alpha-thalassemia

aromatase deficiency

congenital adrenal hyperplasia

cowden syndrome

cushing syndrome

familial mediterranean fever

gm1 gangliosidosis

harlequin ichthyosis

hirschsprung disease

inclusion body myositis

kallmann syndrome

pendred syndrome

proteus syndrome

pyruvate dehydrogenase deficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated