Pendred's syndrome

J Coll Physicians Surg Pak. 2003 Aug;13(8):463-4.

Abstract

This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahim YarKhan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Consanguinity
  • Deafness / diagnosis
  • Deafness / genetics*
  • Deafness / therapy
  • Genetic Diseases, Inborn / complications
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / therapy*
  • Goiter
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / therapy
  • Humans
  • Iodides / metabolism
  • Male
  • Thyroid Diseases / diagnosis
  • Thyroid Diseases / genetics*
  • Thyroid Diseases / therapy

Substances

  • Iodides