title: Pendred syndrome in Tunisia.
abstract: OBJECTIVE
  We report a clinical and genetic study of three consanguineous Tunisian families affected by Pendred syndrome.
  
  
  METHODS
  Three families from the south of Tunisia were identified as affected by Pendred syndrome. The patients and their families underwent ENT and general examination and audiovestibular and radiological tests. Molecular DNA analysis was performed by the Sfax Human Molecular Genetics Department.
  
  
  RESULTS
  Forty-three patients (mean age: 21 years [2-60 years]) were affected. Tonal audiometry showed bilateral sensorineural hearing loss in 87.5% of cases, and mixed hearing loss in 12.5% with bilateral high frequency sensorineural hearing loss and conductive hearing loss at lower frequencies. Deafness was severe in 21% and profound in 79% of cases. Thyroid goiter was found in 46.5% of cases. Inner ear CT scan found enlarged bilateral vestibular aqueducts in all cases. Hormone analysis was normal and perchlorate test negative in all cases. A single Pendred syndrome (PDS) gene mutation, L445W, was found.
  
  
  CONCLUSIONS
  Pendred syndrome is the most frequent congenital deafness syndrome. It is characterized by great intrafamilial phenotype variability.
authors.affiliation: ENT and Head and Neck Surgery Department, Habib Bourguiba Teaching Hospital, Sfax, Tunisia.
authors.forename: I
authors.initials: I
authors.lastname: Charfeddine
authors.forename: M
authors.initials: M
authors.lastname: Mnejja
authors.forename: B
authors.initials: B
authors.lastname: Hammami
authors.forename: A
authors.initials: A
authors.lastname: Chakroun
authors.forename: S
authors.initials: S
authors.lastname: Masmoudi
authors.forename: H
authors.initials: H
authors.lastname: Ayadi
authors.forename: A
authors.initials: A
authors.lastname: Ghorbel
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003431:Cross-Cultural Comparison; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006044:Goiter, Nodular / Q000175:diagnosis / Q000235:genetics; D006312:Hearing Loss, Bilateral / Q000175:diagnosis / Q000235:genetics; D006314:Hearing Loss, Conductive / Q000175:diagnosis / Q000235:genetics; D006316:Hearing Loss, High-Frequency / Q000175:diagnosis / Q000235:genetics; D046089:Hearing Loss, Mixed Conductive-Sensorineural / Q000175:diagnosis / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D014057:Tomography, X-Ray Computed; D014416:Tunisia; D014723:Vestibular Aqueduct / Q000473:pathology; D055815:Young Adult