Pendred syndrome: Sensitivity and Specificity
Introduction:
Most common syndromic form of hereditary SNHL
AR
Associated thyroid goiter develops in 2nd decade of life - usually euthyroid
Hearing loss is usually congenital - severe to profound, bilateral and pre-lingual
Most cases result from mutations in SLC26A4 gene that encodes an anion transporter known as pendrin that is expressed in the inner ear, thyroid, and kidney
Radiologic studies always show a temporal bone anomaly, either dilated vestibular aqueducts or Mondini dysplasia
[Edit Diagnosis] [Merge dx] [Add prevalence]
Tags:
None. Tag this Diagnosis.
Prevalence
The sensitivity and specificity
of findings for Pendred syndrome are listed below.
See the left navigation bar to change the display.