Literature DB >> 18349467

Goitre and hearing impairment in a patient with Pendred syndrome.

L I Arwert1, J M Sepers.   

Abstract

A case is described here of a young euthyroid woman with a goitre and hearing impairment. Perchlorate discharge test showed increased washout of iodine. Genetic analysis confirmed the diagnosis of Pendred syndrome as a mutation in the Pds gene was found. The patient was treated with potassium iodine orally. During follow-up there where no symptoms of hyperthyroidism and the size of the goitre decreased.

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Year:  2008        PMID： 18349467

Source DB:  PubMed          Journal:  Neth J Med        ISSN： 0300-2977            Impact factor:   1.422


  2 in total

1.  Delayed diagnosis of Pendred syndrome.

Authors:  Natalie Smith; Jean-Marie U-King-Im; Janaka Karalliedde
Journal:  BMJ Case Rep       Date:  2016-09-12

2.  Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

Authors:  Byung Yoon Choi; Andrew K Stewart; Anne C Madeo; Shannon P Pryor; Suzanne Lenhard; Rick Kittles; David Eisenman; H Jeffrey Kim; John Niparko; James Thomsen; Kathleen S Arnos; Walter E Nance; Kelly A King; Christopher K Zalewski; Carmen C Brewer; Thomas Shawker; James C Reynolds; John A Butman; Lawrence P Karniski; Seth L Alper; Andrew J Griffith
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878
  2 in total

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