Pedigree Analysis and Audiological Investigations of Otosclerosis: An Extended Family Based Study

Abstract

Background and ObjectivesTo analyse the audiometric profile and the pedigree of a large family with otosclerosis to understand the inheritance pattern and its implication in clinical management of the disease.Subjects and MethodsPedigree analysis was performed on the basis of family history and audiometric tests. Pure tone audiometry, tympanometry, and acoustic reflexes were evaluated for the family members. Audiometric analysis was also carried out for the individuals who have already underwent corrective surgery at the time of study.ResultsOut of 112 family members, 17 were affected individuals, and 11 of them were surgically confirmed. Hearing loss (HL) started unilaterally and progressed to bilateral form. Otosclerosis was presented in early 20’s in the first and second generations but it was delayed to mid-late 30’s in the fourth generation. An affected female was diagnosed with otosclerosis during her pregnancy. Though the disease was familial, a mother of four affected offspring in this family did not develop otosclerosis until she died at the age of 84.ConclusionsThe five-generation family, which was analysed in the present study, exhibited autosomal dominant inheritance of otosclerosis with reduced penetrance. Bilateral HL and pregnancy-aggravated otosclerosis were observed in this family. It was found for the first time that the age of onset of the disease delayed in the successive generations. The current study indicated the importance of detailed pedigree analysis for better clinical management of otosclerosis.

Does pregnancy have an influence on otosclerosis?

“…Among the selected articles, 6,10,13,14,[32][33][34][35][36][37][38] the most recent was the study by Crompton et al 38 in which a British cohort with otosclerosis was studied retrospectively from 2011 to 2017. Consistent with the literature, women comprised 65 per cent of the cohort so that the female to male ratio was 1.9:1.…”

“…As explained above, this is one of the differing and controversial opinions regarding this topic. After the last review, four articles were published: two of them have been analysed in this study 37,38 , one was discarded because of non-adherence to the purpose of this research 42 and one more 43 was discarded because no patient characterisation was present, so no data were available for this study. We compared the results from across the studies obtaining estimations of probability (prevalence) and obtained one statistically significant result on the influence of pregnancy on otosclerosis, which was not reported in any of the analysed articles.…”

Otosclerosis: Experience With Stapes Surgery

“…Pregnancy is known to aggravate the disease process; consequently, otosclerosis is more prevalent in females [5,6]. A familial history of hearing loss has been reported in 50% of the cases [7].…”