European annals of otorhinolaryngology, head and neck diseases · 2010
Pendred syndrome in Tunisia.
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Charfeddine I, Mnejja M, Hammami B, Chakroun A, Masmoudi S, Ayadi H, Ghorbel A
Аннотация
OBJECTIVES: We report a clinical and genetic study of three consanguineous Tunisian families affected by Pendred syndrome.
PATIENTS AND 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.
DISCUSSION: Pendred syndrome is the most frequent congenital deafness syndrome. It is characterized by great intrafamilial phenotype variability.
PATIENTS AND 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.
DISCUSSION: Pendred syndrome is the most frequent congenital deafness syndrome. It is characterized by great intrafamilial phenotype variability.
Предметные рубрики MeSH
AdolescentAdultChildChild, PreschoolConsanguinityCross-Cultural ComparisonFemaleGenetic Carrier ScreeningGenetic TestingGoiter, NodularHearing Loss, BilateralHearing Loss, ConductiveHearing Loss, High-FrequencyHearing Loss, Mixed Conductive-SensorineuralHearing Loss, SensorineuralHumansMaleMiddle AgedPedigreePhenotypeTomography, X-Ray ComputedTunisiaVestibular AqueductYoung Adult