Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred’s syndrome

• Published in: International journal of pediatric otorhinolaryngology Vol. 45; no. 2; pp. 113 - 123
• Main Authors: Cremers, Cor W.R.J., Admiraal, Ronald J.C., Huygen, Patrick L.M., Bolder, Cuny, Everett, Lorraine A., Joosten, Frank B.M., Green, Eric D., van Camp, Guy, Otten, Barto J.
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier Ireland Ltd 02.10.1998; Elsevier
• Subjects: Autosomal recessive; Biological and medical sciences; Child; Child, Preschool; Childhood deafness; Cochlea - abnormalities; DNA Mutational Analysis; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology; Enlarged vestibular aqueduct; Female; Follow-Up Studies; Genetic deafness; Goiter - genetics; Hearing Loss, Sensorineural - genetics; Humans; Infant; Male; Medical sciences; Mondini’s dysplasia; Non tumoral diseases; Otorhinolaryngology. Stomatology; PDS gene; Pendred’s syndrome; Phenotype; Regression Analysis; Sensorineural hearing loss; Syndrome; Time Factors; Vestibular Aqueduct - pathology; Widened vestibular aqueduct; Autosomal recessive; Genetic deafness; Enlarged vestibular aqueduct; Sensorineural hearing loss; Pendred’s syndrome; Childhood deafness; Widened vestibular aqueduct; PDS gene; Mondini’s dysplasia; Endocrinopathy; Human; Radiodiagnosis; Family study; Internal ear disease; Thyroid diseases; Auditory disorder; Clinical form; Congenital disease; Nuclear magnetic resonance imaging; Genetic disease; Pendred syndrome; Follow up study; Medical imagery; ENT disease; Genetics; Perception hearing loss; Computerized axial tomography; Widening; Mondini defect; Mutation; Vestibular aqueduct
• ISSN: 0165-5876; 1872-8464
• DOI: 10.1016/S0165-5876(98)00123-2

Long-term hearing threshold-on-age follow-up data, including non-linear regression analysis, are given for 12 consecutive Pendred patients. The clinical diagnosis of Pendred’s syndrome was confirmed by a mutation analysis of the PDS gene in 11 out of the 11 cases tested. Recent imaging of the temporal bones in seven out of these 12 patients showed widened vestibular aqueducts in each case. The diagnostic perchlorate test was negative in one patient, but this test was positive in her affected sister. Mutation analysis of the PDS gene in these patients confirmed that Pendred’s syndrome is a monogenetic disorder. Progressive sensorineural hearing loss and widened vestibular aqueducts are characteristic features of Pendred’s syndrome, which provides the opportunity to diagnose Pendred’s syndrome clinically in the first few years of life, as has recently been suggested in a case report (Cremers et al., Progressive sensorineural hearing loss and a widend vestibular aqueduct in Pendred syndrome, Arch. Otolaryngol. 124 (1998) 501–505). Mutation analysis of the involved gene can be used to confirm the clinical diagnosis.