GetTheDiagnosis.org

Welcome, guest.
Login or Sign up to edit.

Add an entry

Search:
 

Tools

Add a finding for this diagnosis

Add prevalence for this diagnosis

Switch to calculator mode to see positive predictive value

Switch to likelihood ratios

Sort findings by Tag

Sort findings by Differential Diagnosis

Jump To

Findings With Unspecified Accuracy

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

    Population / CalculatorPrevalence Comments / Study / Link
    0.007% 7.5-10 / 100,000

    PMID:9398842

    More, Edit...

    The sensitivity and specificity of findings for Pendred syndrome are listed below. See the left navigation bar to change the display.

    Findings With Unspecified Accuracy

    Finding SensitivitySpecificity Comments, Study
    Sensorineural hearing loss (SNHL) Edit No accuracy specified.

    Study: no study specified.

    Goiter Edit No accuracy specified.

    PMID:9398842

    Study: no study specified.

    perchlorate discharge test Edit No accuracy specified.

    Study: no study specified.

    Enlarged vestibular aqueduct (EVA) Edit No accuracy specified.

    Study: no study specified.

    Mondini dysplasia Edit No accuracy specified.

    Study: no study specified.

    Congenital hearing loss Edit No accuracy specified.

    Study: no study specified.

    SLC26A4 genetic testing Edit No accuracy specified.

    Study: no study specified.