title: Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome?
abstract: 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.
authors.affiliation: Ondokuz Mayıs University, Faculty of Medicine, Pediatric Endocrinology, Samsun, Turkey. cengizkara68@yahoo.com
authors.forename: Cengiz
authors.initials: C
authors.lastname: Kara
authors.forename: Mehtap
authors.initials: M
authors.lastname: Kılıç
authors.forename: Ahmet
authors.initials: A
authors.lastname: Uçaktürk
authors.forename: Murat
authors.initials: M
authors.lastname: Aydın
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D000293:Adolescent; D002648:Child; D003409:Congenital Hypothyroidism / Q000473:pathology*; D003638:Deafness / Q000473:pathology*; D005260:Female; D006042:Goiter / Q000151:congenital; D006044:Goiter, Nodular / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007453:Iodide Peroxidase / Q000235:genetics / Q000378:metabolism; D007454:Iodides / Q000378:metabolism*; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D009154:Mutation; D035781:Siblings; D000076988:Sulfate Transporters; D013577:Syndrome
chemical_list: D007454:Iodides; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D007453:Iodide Peroxidase