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Findings With Unspecified Accuracy

Pendred syndrome: Likelihood Ratios

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 likelihood ratios of findings for Pendred syndrome are listed below. See the left navigation bar to change the display.

    Findings With Unspecified Accuracy

    Finding +LR-LR 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.