Cited by 38Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesHearing, Cochlea, Tinnitus, GeneticsSexual Differentiation and Disorders

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

Bonnard, Åsa, Bark, Rusana, Hederstierna, Christina·2019·American Journal of Medical Genetics Part C Seminars in Medical Genetics

Abstract

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. The pathophysiology of the sensorineural hearing loss in TS is not known, but theories regarding estrogen deficiency, the cell cycle delay hypothesis, IGF-1 deficiency and the possible role of the KDM6A gene are discussed. Due to the diversity of symptoms and conditions within the same karyotype, a combination of genetic factors altered by epigenetic and/or hormonal effects is probable. Further research is needed regarding the pathophysiology of ear and hearing problems in TS to develop new treatment methods.

Integrity signals

Registry

Crossref · 10.1002/ajmg.c.31673

Cites

65 of 65 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Bonnard, Å., Bark, R., & Hederstierna, C.
Affiliations
Karolinska University Hospital (SE)
Corresponding author
Bonnard, Åsa
Venue
American Journal of Medical Genetics Part C Seminars in Medical Genetics
Publisher
Wiley
Published
2019-01-10
Volume
181
Issue
1
Pages
67-73
ISSN
  • 1552-4868 (ISSN-L)
  • 1552-4876
OpenAlex
W2911070197
Cited by
38
References
65
Citations by year
2026: 1 · 2025: 1 · 2024: 8 · 2023: 5 · 2022: 5 · 2021: 12 · 2020: 2 · 2019: 2
FWCI
0.70
Type
journal article
Language
en
Open access
closed
Locations
  • American Journal of Medical Genetics Part C Seminars in Medical Genetics (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health (UL1TR000371)
  • National Center for Advancing Translational Sciences
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Life Sciences › Neuroscience › Sensory Systems › Hearing, Cochlea, Tinnitus, Genetics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Keywords
Turner syndrome, sensorineural hearing loss, X chromosome, Xp deletion, hearing aids, estrogen deficiency, IGF-1 deficiency, epigenetics
MeSH terms
Female, Hearing Loss, Sensorineural, Humans, Turner Syndrome, Chromosomes, Human, X, Karyotype

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review