| Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome. | |
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MedLine Citation:
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PMID: 17982369 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVES: Turner syndrome is the most common sex chromosome disorder in females, and is caused by a total or partial deletion of one X chromosome. The purpose of this study was to describe the auditory phenotype in a large group of individuals with Turner Syndrome, with analysis focusing on hearing loss and age, as well as the phenotypic relationship to karyotype variation. DESIGN: Our analysis of auditory function was part of a large-scale, natural history study in which clinical and genetic factors related to Turner syndrome were examined. This ascertainment avoids the bias inherent in studies of patients referred to audiology or otolaryngology specialty clinics. Analysis included data from 200 females with Turner syndrome ranging in age from 7 to 61 yr (mean=27.9 yr). RESULTS: We observed hearing loss in approximately one-half of females with Turner syndrome, and report on a common, previously unlabeled audiometric configuration found in 24% of ears tested. Our cross-sectional design revealed an observable deterioration in hearing loss above the averaged rate of age-related hearing loss seen in an otologically screened, standardized population. Karyotype analysis revealed air conduction thresholds that were significantly poorer in the 46, XdelXp and 46, XiXq groups than in the 46, XdelXq group. CONCLUSIONS: This natural history study provides a more representative description of the auditory phenotype associated with Turner syndrome than previous studies that may have been biased by the method of ascertainment. Correlative analysis of Turner syndrome-specific hearing loss features with karyotype revealed that air conduction threshold elevations are associated with loss of the p arm of chromosome X. Our cross-sectional data indicate a loss of hearing sensitivity at an accelerated rate beyond a normal age-related decline, which warrants continued audiologic monitoring in all females with Turner syndrome regardless of a history of normal hearing. |
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Authors:
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Kelly A King; Tomoko Makishima; Christopher K Zalewski; Vladimir K Bakalov; Andrew J Griffith; Carolyn A Bondy; Carmen C Brewer |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Intramural |
Journal Detail:
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Title: Ear and hearing Volume: 28 ISSN: 0196-0202 ISO Abbreviation: Ear Hear Publication Date: 2007 Dec |
Date Detail:
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Created Date: 2007-11-05 Completed Date: 2008-04-29 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8005585 Medline TA: Ear Hear Country: United States |
Other Details:
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Languages: eng Pagination: 831-41 Citation Subset: IM |
Affiliation:
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Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland 20892, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Chromosome Deletion Chromosomes, Human, X Female Gene Frequency Genetic Predisposition to Disease Hearing* Humans Karyotyping Male Middle Aged Phenotype Turner Syndrome / genetics* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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