Osteogenesis imperfecta

The risk of hearing loss in osteogenesis imperfecta is higher than in the general population, although not all OI sufferers will develop hearing loss (approximately 50% of OI will develop hearing loss). It can begin at any age, but is usually detected in the second or third decade of life (young adults) and is progressive.

Hearing in OI can be affected by bone fractures or by alterations due to abnormal bone structure. Transmission hypoacusis generally appears, due to the presence of fractures or microfractures of the ossicles of the middle ear or the appearance of otosclerosis, which produces a fixation of the bones, hindering the transmission of sound through the middle ear. Mixed hearing loss can also be detected, with a sensorineural component due to cochlear involvement, which appears to be caused by microfractures, haemorrhages secondary to fractures and/or invasion of the cochlea by fibrous tissue.