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Table of Contents
Vol. 58, No. 3, 2007
Issue release date: October 2007
Section title: Historical Note
Eur Neurol 2007;58:189–190
(DOI:10.1159/000104724)

Pendred’s Syndrome

Pearce J.M.S.
Emeritus Consultant Neurologist, Department of Neurology, Hull Royal Infirmary and Hull York Medical School, Hull, UK
email Corresponding Author

Abstract

Vaughan Pendred, whilst still a junior doctor, wrote the original account of familial sensorineural deafness associated with goitre, now known as Pendred’s syndrome. His account is reproduced verbatim.

© 2007 S. Karger AG, Basel


  

Key Words

  • Pendred’s syndrome
  • Sensorineural deafness
  • Goitre

Introduction

Neurologists sometimes encounter Pendred’s syndrome, one of the most frequent causes of congenital deafness, accounting for about 10% of all cases of hereditary deafness. Pendred (1869–1946) was a Guy’s Hospital graduate and is said to have become a general practitioner. Pendred’s syndrome is an autosomal recessive disorder defined by congenital sensorineural deafness, goitre, and impaired iodide organification [1]. Patients are usually euthyroid. The sensorineural deafness is typically associated with a malformation of the inner ear in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns, referred to as Mondini cochlea. It is caused by mutations in the pendrin (PDS) gene, a 21-exon gene located on chromosome 7q22–31.1 and expressed in the thyroid, the inner ear, and in the kidney. The administration of perchlorate in these patients results in a partial discharge of radiolabelled iodide from the thyroid, indicating an impaired organification of this trace element into thyroglobulin.

The Lancet of August 22, 1896, carries the report [2] from Pendred, as shown in figure 1:

FIG01
Fig. 1. Pendred’s ‘Clinical Notes’, Lancet 1896.

It was exactly a century later that Coyle et al. [3] and Sheffield et al. [4] in consecutive papers in Nature Genetics showed that the disorder maps to chromosome 7q.


References

  1. Gillam MP, Bartolone L, Kopp P, Bevenga S: Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred’s syndrome. Thyroid 2005;15:734–741.
  2. Pendred V: Deaf-mutism and goitre. Lancet 1896;2:532.
  3. Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey, M, Reardon W, Trembath R: Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 1996;12:421–423.
  4. Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M, Sadeh O, Glaser B: Pendred syndrome maps to chromosome 7q21–34 and is caused by an intrinsic defect in thyroid iodine organification. Nat Genet 1996;12:424–426.

  

Author Contacts

J.M.S. Pearce
304 Beverley Road
Anlaby, East Yorks HU10 7BG (UK)

  

Article Information

Received: January 10, 2007
Accepted: January 10, 2007
Published online: July 2, 2007
Number of Print Pages : 2
Number of Figures : 1, Number of Tables : 0, Number of References : 4

  

Publication Details

European Neurology

Vol. 58, No. 3, Year 2007 (Cover Date: October 2007)

Journal Editor: Bogousslavsky, J. (Montreux)
ISSN: 0014–3022 (print), 1421–9913 (Online)

For additional information: http://www.karger.com/ENE


Copyright / Drug Dosage / Disclaimer

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

Abstract

Vaughan Pendred, whilst still a junior doctor, wrote the original account of familial sensorineural deafness associated with goitre, now known as Pendred’s syndrome. His account is reproduced verbatim.

© 2007 S. Karger AG, Basel


  

Author Contacts

J.M.S. Pearce
304 Beverley Road
Anlaby, East Yorks HU10 7BG (UK)

  

Article Information

Received: January 10, 2007
Accepted: January 10, 2007
Published online: July 2, 2007
Number of Print Pages : 2
Number of Figures : 1, Number of Tables : 0, Number of References : 4

  

Publication Details

European Neurology

Vol. 58, No. 3, Year 2007 (Cover Date: October 2007)

Journal Editor: Bogousslavsky, J. (Montreux)
ISSN: 0014–3022 (print), 1421–9913 (Online)

For additional information: http://www.karger.com/ENE


Article / Publication Details

First-Page Preview
Abstract of Historical Note

Received: 1/10/2007
Accepted: 10/1/2007
Published online: 7/2/2007
Issue release date: October 2007

Number of Print Pages: 2
Number of Figures: 1
Number of Tables: 0

ISSN: 0014-3022 (Print)
eISSN: 1421-9913 (Online)

For additional information: http://www.karger.com/ENE


Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

References

  1. Gillam MP, Bartolone L, Kopp P, Bevenga S: Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred’s syndrome. Thyroid 2005;15:734–741.
  2. Pendred V: Deaf-mutism and goitre. Lancet 1896;2:532.
  3. Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey, M, Reardon W, Trembath R: Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 1996;12:421–423.
  4. Sheffield VC, Kraiem Z, Beck JC, Nishimura D, Stone EM, Salameh M, Sadeh O, Glaser B: Pendred syndrome maps to chromosome 7q21–34 and is caused by an intrinsic defect in thyroid iodine organification. Nat Genet 1996;12:424–426.