Pendred syndrome in Tunisia.

[pendred syndrome]

We report a clinical and genetic study of three consanguineous Tunisian families affected by Pendred syndrome .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 .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 , L 445 W , was found .Pendred syndrome is the most frequent congenital deafness syndrome . It is characterized by great intrafamilial phenotype variability .

Diseases
Validation

Diseases presenting "goiter" symptom

cowden syndrome

familial mediterranean fever

kabuki syndrome

pendred syndrome

This symptom has already been validated