Hearing Loss and Turner Syndrome: A Scoping Review.

Abstract

Hearing loss (HL) is one of the most frequent disorders in Turner syndrome (TS); HL can be present with a wide spectrum of manifestations and also evolve with age. The aim of this paper is to perform a review of the literature on the prevalence of HL in TS patients also analyzing the possible genetic alterations underlying the auditory features. A review of the literature was performed using PubMed/MEDLINE, EMBASE, and Cochrane Library databases, according to the preferred reporting items for systematic reviews and meta-analyses criteria for scoping reviews (from 2000 to December 2023). A total of 17 articles and 2129 patients with TS have been included; the majority of studies focused on young women/girls, with a mean age range from 2 to 43.6 years. External and middle ear problems, inducing conductive and mixed HL, have been reported to be more frequent in childhood, while sensorineural HL has been described since adolescence. Monosomy 45,X and loss of the X chromosome short arm (p) are the alterations most frequently associated with HL. To date, the pathophysiological mechanisms related to HL in TS are still not fully understood; further studies are necessary to clarify these features and to offer therapies or prevention strategies to avoid the progression of HL in TS subjects.