Clinical update on sensorineural hearing loss in Turner syndrome and the X‐chromosome

@article{Bonnard2019ClinicalUO,
  title={Clinical update on sensorineural hearing loss in Turner syndrome and the X‐chromosome},
  author={{\AA}sa Bonnard and Rusana Bark and Christina Hederstierna},
  journal={American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
  year={2019},
  volume={181},
  pages={67 - 73}
}
Hearing loss is one of the major medical concerns in girls and women with Turner syndrome (TS) and has a negative effect on well‐being and quality of everyday life. Sensorineural hearing loss is the most common type of hearing loss, affecting more than half of adults with TS. Karyotypes with a loss of the short p‐arm on the X‐chromosome are more prone to ear and hearing problems. The importance of detecting, investigating, and treating hearing loss with hearing aids cannot be emphasized enough… 
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References

SHOWING 1-10 OF 90 REFERENCES
Characterization of hearing in an X,0 ‘Turner mouse’
TLDR
Results indicate that hearing problems in the Turner mouse seems to be of cochlear origin with an eighth nerve component, which is quite similar to humans and can therefore be used as a model to determine the auditory pathology underlying this syndrome.
Ear and hearing in relation to genotype and growth in Turner syndrome
TLDR
A new hypothesis on the pathophysiology of external, middle and inner ear disorders due to a delayed cell cycle caused by chromosomal aberrations per se and not only to the specific X chromosome deletion is presented.
Ear and Hearing Problems in Turner's Syndrome
TLDR
The immunohistochemical study confirmed that estrogen receptors are present in the inner ear of humans and may have an effect on hearing loss in TS patients but this phenomenon requires further investigation.
Karyotype-Specific Ear and Hearing Problems in Young Adults With Turner Syndrome and the Effect of Oxandrolone Treatment
  • E. Verver, K. Freriks, +13 authors H. Kunst
  • Medicine
    Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
  • 2014
TLDR
Young-adult TS individuals frequently have structural ear pathology, and many suffer from hearing loss, which indicates that careful follow-up to detect ear and hearing problems is necessary, especially for those with a monosomy 45,X or isochromosome 46,X,i(Xq).
Turner's syndrome and hearing disorders in women aged 16–34
TLDR
Forty women with Turner's syndrome aged 16-34 years were tested clinically and audiometrically according to their ear problems and hearing and an early high-frequency hearing loss could be noted in the present group among the older women.
Ear and hearing problems in relation to karyotype in children with Turner syndrome
TLDR
It is for the first time that a relation between hearing problems and karyotype is statistically confirmed in a large group of children with TS and support the hypothesis that hearing can be affected by loss of the p-arm of the X-chromosome.
Oestrogen Deficiency and Growth Hormone Treatment in Childhood Are Not Associated with Hearing in Adults with Turner Syndrome
TLDR
Current regimens of oestrogen and GH therapy have no impact on adult hearing loss in TS, independent of age, and the only possible intervention to reduce hearing loss remains assiduous treatment of ENT problems in childhood.
Analysis of Auditory Phenotype and Karyotype in 200 Females with Turner Syndrome
TLDR
The 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.
The role of the SHOX gene in the pathophysiology of Turner syndrome.
  • C. Oliveira, C. Alves
  • Medicine, Chemistry
    Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion
  • 2011
TLDR
The current knowledge of the SHOX gene role in TS pathophysiology is evaluated to improve understanding how SHOX participates in cartilage and bone growth and will help develop novel therapeutic strategies focused on SHOX-related disorders.
Otological problems in children with Turner's syndrome
TLDR
The data of this study confirm that the dip is progressive over time and may be detectable as early as at the age of 6, giving a chance to predict a future hearing loss.
...
1
2
3
4
5
...