Study of Genetic and Epigenetic Factors in Inner Ear Problems and Hearing Loss in Women with Turner Syndrome, Ages 18 to 60

What this Trial Is About

This research focuses on people with Turner syndrome TS to explore genetic and epigenetic factors linked to sensorineural hearing loss SNHL. The study aims to identify specific DNA methylation patterns and RNA expression profiles related to SNHL in TS, and to understand if epigenetics plays a key role in unexplained cases of SNHL. Turner syndrome serves as a model to investigate inner ear dysfunction and its connection to epigenetic profiles. Participants are grouped into three categories individuals with TS and SNHL, individuals with TS without SNHL, and healthy age-matched controls without TS or SNHL. The study involves observational assessments without drug or device interventions. Participants will undergo ear exams, hearing and balance tests, blood draws, MRI scans, and cone-beam computed tomography CBCT scans. During the study, researchers will evaluate epigenetic profiles, hearing abilities, vestibular balance status, and structural ear malformations. These assessments will occur from 2024 through 2026. The study will monitor participants inner ear structure and function, correlating findings with genetic and epigenetic data. The total participation period extends through 2027, allowing for comprehensive data collection and analysis.

Genetic and Epigenetic Background of Inner Ear Dysfunction in Turner Syndrome