TY - JOUR T1 - Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome JO - Brazilian Journal of Otorhinolaryngology (English Edition) T2 - AU - Bazilio,Martha Marcela de Matos AU - Santos,Adriana Fernandes Duarte dos AU - Almeida,Fernanda Gomes de AU - Frota,Silvana AU - Guimarães,Marília AU - Ribeiro,Márcia Gonçalves SN - 18088694 M3 - 10.1016/j.bjorl.2020.03.005 DO - 10.1016/j.bjorl.2020.03.005 UR - http://www.bjorl.org.br/en-association-between-cytogenetic-alteration-audiometric-articulo-S1808869420300513 AB - IntroductionTurner syndrome is a frequent genetic disorder that affects female individuals and covers a large phenotypic variability. Scientific literature suggests an association between hearing loss and Turner syndrome, but it remains a controversial topic. ObjectiveTo associate the cytogenetic alteration with the audiometric profile of individuals with Turner syndrome. MethodsCross-sectional study, with a hospital-based, convenience sample. Patients diagnosed with Turner syndrome were included and those with difficulty understanding the audiometry and/or other associated syndromes were excluded. The participants were studied with pure tone audiometry. ResultsOf the 65 patients included, 36.9% had X chromosome monosomy and 63.0% had other alterations. Regarding the audiometry, 64.6% had normal thresholds and 35.3% had hearing impairment. Of these, 30.4% had hybrid hearing loss, 26.0% alteration at 6 and/or 8kHz, 17.3% had conductive hearing loss, 13.0% sensorineural loss and 13.0% had mixed hearing loss. We observed that the mild degree was the most frequent one. There was no statistically significant association between the cytogenetic type of Turner syndrome and the presence or absence of hearing loss, or with the type and degree of hearing loss. ConclusionThe cytogenetic alteration in Turner syndrome was not associated with the audiometric profile, which showed variability regarding the type and degree of hearing loss. ER -