Document Detail

Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.
MedLine Citation:
PMID:  19620588     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To evaluate thyroid structure and function in patients with enlargement of the vestibular aqueduct (EVA) and sensorineural hearing loss.
DESIGN: Prospective cohort survey.
SETTING: National Institutes of Health Clinical Center, a federal biomedical research facility.
PATIENTS: The study population comprised 80 individuals, aged 1.5 to 59 years, ascertained on the basis of EVA and sensorineural hearing loss.
MAIN OUTCOME MEASURES: Associations among the number of mutant alleles of SLC26A4; volume and texture of the thyroid; percentage of iodine 123 ((123)I) discharged at 120 minutes after administration of perchlorate in the perchlorate discharge test; and peripheral venous blood levels of thyrotropin, thyroxine, free thyroxine, triiodothyronine, thyroglobulin, antithyroid peroxidase and antithyroglobulin antibodies, and thyroid-binding globulin.
RESULTS: Thyroid volume is primarily genotype dependent in pediatric patients but age dependent in older patients. Individuals with 2 mutant SLC26A4 alleles discharged a significantly (P < or = .001) greater percentage of (123)I compared with those with no mutant alleles or 1 mutant allele. Thyroid function, as measured by serologic testing, is not associated with the number of mutant alleles.
CONCLUSIONS: Ultrasonography with measurement of gland volume is recommended for initial assessment and follow-up surveillance of the thyroid in patients with EVA. Perchlorate discharge testing is recommended for the diagnostic evaluation of patients with EVA along with goiter, nondiagnostic SLC26A4 genotypes (zero or 1 mutant allele), or both.
Anne C Madeo; Ani Manichaikul; James C Reynolds; Nicholas J Sarlis; Shannon P Pryor; Thomas H Shawker; Andrew J Griffith
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Intramural    
Journal Detail:
Title:  Archives of otolaryngology--head & neck surgery     Volume:  135     ISSN:  1538-361X     ISO Abbreviation:  Arch. Otolaryngol. Head Neck Surg.     Publication Date:  2009 Jul 
Date Detail:
Created Date:  2009-07-21     Completed Date:  2009-08-06     Revised Date:  2013-06-02    
Medline Journal Info:
Nlm Unique ID:  8603209     Medline TA:  Arch Otolaryngol Head Neck Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  670-6     Citation Subset:  AIM; IM    
Social and Behavioral Research Branch, National Human GenomeResearch Institute, National Institutes of Health, Bethesda, MD 20892-3320, USA.
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MeSH Terms
Child, Preschool
Goiter / genetics
Hearing Loss, Sensorineural / genetics,  physiopathology*
Membrane Transport Proteins / genetics
Middle Aged
Perchloric Acid / diagnostic use
Prospective Studies
Thyroid Function Tests
Thyroid Gland / physiopathology*,  ultrasonography
Vestibular Aqueduct / pathology*
Young Adult
Grant Support
Reg. No./Substance:
0/Membrane Transport Proteins; 0/SLC26A4 protein, human; 7601-90-3/Perchloric Acid

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

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