TY - JOUR T1 - Etiology of early hearing loss in Brazilian children JO - Brazilian Journal of Otorhinolaryngology (English Edition) T2 - AU - Faistauer,Marina AU - Lang Silva,Alice AU - Félix,Têmis Maria AU - Todeschini de Souza,Liliane AU - Bohn,Renata AU - Selaimen da Costa,Sady AU - Petersen Schmidt Rosito,Letícia SN - 18088694 M3 - 10.1016/j.bjorl.2021.02.012 DO - 10.1016/j.bjorl.2021.02.012 UR - http://www.bjorl.org.br/en-etiology-early-hearing-loss-in-articulo-S1808869421000574 AB - IntroductionHearing loss etiology depends on the population studied as well as on the ethnicity and the socio-economic condition of the analyzed region. Etiological diagnosis contributes to the improvement of preventive measures and to the early identification of this deficiency. ObjectiveTo identify the etiological factors of hearing loss and its prevalence in a tertiary hospital in southern Brazil, to verify the frequency of mutations in GJB2 and GJB6 genes, and to correlate the degree of hearing loss with the etiological factors of deafness. MethodsThis prevalence study involved 140 children with bilateral sensorineural or mixed hearing loss. Medical history, physical examination, audiometry, and evoked auditory brainstem response were conducted. Imaging and genetic examinations were also performed. ResultsEtiologies and their prevalence were as follows: (a) indeterminate causes, 31.4%; (b) conditions related to neonatal period, 22.1%; (c) genetic, 22.1%; (d) auditory neuropathy, 10%; (e) other factors (cortical malformation, intracranial hemorrhage, and internal ear malformations), 7.9% and (f) congenital infections, 6.4%. Within the genetic cases, ten homozygous and seven heterozygotes of the 35delG mutation were identified, besides two cases of rare variants of GJB2: p.Try172* and p.Arg184Pro. One case with homozygosis of del(GJB6-D13S1830) was found. Regarding severity of hearing loss, in 78.6% of the cases the degree of hearing loss was profound and there were no significant differences when comparing between etiologies. ConclusionThe number of indeterminate etiologies is still high and congenital CMV infection may be a possible cause of undiagnosed etiology for hearing loss. The predominance of etiologies related to neonatal conditions and infectious causes are characteristic of developing countries. The most prevalent mutation was 35delG, the main GJB2 gene, probably because of the European influence in the genotype of our population. ER -