Document Detail


Pendred syndrome.
MedLine Citation:
PMID:  16444159     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Pendred Syndrome, first described in 1896, is phenotypically characterized as the coexistence of sensorineural deafness and enlarged goiter with elevated iodine discharge after perchlorate administration. In 1996 the syndrome was mapped to chromosome 7 and the following year, the responsible gene was cloned and mutations were identified. The gene, pds, codes for a 780 amino acid protein, pendrin, which functions as an ion transporter. Located on the apical membrane of thyrocytes, it appears to be responsible for the transport of iodide out of the cell into the colloid where iodination of thyroglobulin occurs, catalyzed by the enzyme thyroid peroxidase. In the absence of the transporter, apical iodide transport is defective and thus organification of iodide is defective, the hallmark of Pendred Syndrome. However, organification is only partially deficient, even in the complete absence of pendrin, suggesting that other, as yet undefined, mechanisms exist that can partially compensate for lack of the protein. The pathophysiology of the hearing loss associated with Pendred syndrome is less well understood. Animal studies suggest that abnormal transporter function may cause abnormal endolymphatic pressure or composition and this results in secondary degeneration of sensory cells and in structural changes of the inner ear. This mechanism, although yet to be proven, suggests the intriguing possibility that early diagnosis and intervention could perhaps prevent at least some of the hearing loss.
Authors:
Benjamin Glaser
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Pediatric endocrinology reviews : PER     Volume:  1 Suppl 2     ISSN:  1565-4753     ISO Abbreviation:  Pediatr Endocrinol Rev     Publication Date:  2003 Dec 
Date Detail:
Created Date:  2006-01-30     Completed Date:  2006-02-28     Revised Date:  2008-04-09    
Medline Journal Info:
Nlm Unique ID:  101202124     Medline TA:  Pediatr Endocrinol Rev     Country:  Israel    
Other Details:
Languages:  eng     Pagination:  199-204; discussion 204     Citation Subset:  IM    
Affiliation:
Endocrinology and Metabolism Service, Department of Internal Medicine, Hadassah - Hebrew University Medical Center, Jerusalem, Israel. beng@cc.huji.ac.il
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MeSH Terms
Descriptor/Qualifier:
Biological Transport
Goiter* / complications,  genetics,  metabolism
Hearing Loss, Sensorineural* / complications,  genetics,  metabolism
Humans
Iodine / metabolism
Membrane Transport Proteins / genetics,  metabolism*
Mutation
Syndrome
Thyroid Gland / metabolism
Chemical
Reg. No./Substance:
0/Membrane Transport Proteins; 0/SLC26A4 protein, human; 7553-56-2/Iodine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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