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

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.

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

“…It is likely that genes or genomic mechanisms are involved in this differential DNA methylation and consequently influence ear function and hearing. Further discussion is found in Bonnard et al ().…”

“…Turner syndrome is associated with several features and complications involving the ear and, less often, nose and throat, which will be referred to as otorhinolaryngological aspects. A recent review describes treatment options and theories regarding the pathophysiology of hearing loss (Bonnard, Bark, & Hederstierna, ), whereas this section will focus on management.…”

“…Eustachian tube dysfunction is viewed as a precursor to middle ear disease, a predisposition factor to both conductive hearing loss and sensorineural hearing loss (SNHL) (Bois et al, ; Yehudai, Most, & Luntz, ). Karyotype is an important predictive factor, as complete lack of the X chromosome or absence of the short arm of the X chromosome increases the risk of development and severity of hearing loss (Bonnard et al, ; Cameron‐Pimblett et al, ; Hultcrantz, ; King et al, ; Verver et al, ). Immune insufficiency of the T‐cell line has been suggested to increase the risk of chronic otitis media.…”

Prevalence, risk factors and management strategies for otological problems in girls with Turner syndrome

“…However, Kubba et al have made a strong case for carrying out annual audiograms in girls with TS, finding that of 16 girls with hearing loss detected between 2016 and 2019, the problem was unsuspected in 12 . In a review article, Bonnar and colleagues have highlighted the high prevalence (over 50%) of hearing loss in adults with TS and the need for research to understand the pathophysiology so as to improve management …”

Age‐related hearing loss: Why we need to think about sex as a biological variable

“…In healthy middle-aged women, the age they enter the menopausal transition as opposed to age per se coincides with a relatively rapid deterioration in hearing (Hederstierna, Hultcrantz, Hultcrantz, Collins, & Rosenhall, 2010;Svedbrant, Bark, Bark, Hultcrantz, & Hederstierna, 2015). Accelerated sensorineural hearing loss is also a well-characterized feature of women with Turner's syndrome who are estrogen deficient (Beckman, Conway, Conway, & Cadge, 2004;Bonnard, Bark, Bark, & Hederstierna, 2019).…”