X-linked mixed hearing loss with perilymphatic gusher

X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare genetic condition that mainly affects males. It is marked by both conductive and sensorineural hearing loss. A key feature of this condition is the abnormal development of the inner ear. Specifically, a dilated internal auditory meatus and an abnormal connection between the cochlear basal turn and the internal auditory canal are noted. These inner ear anomalies can lead to a complication known as a perilymphatic gusher during ear surgery, especially when there is attempted movement of a fixed stapes bone. While males experience more profound hearing loss, female carriers tend to have mild to moderate hearing loss. This condition is non-syndromic, meaning it does not usually present with other systemic issues.

People with this condition typically experience a mix of conductive and sensorineural hearing loss. The condition leads to challenges in hearing, which can range from high-frequency hearing difficulties to profound hearing loss. In affected males, the hearing impairment is often severe, while obligate female carriers may have milder symptoms.

This condition is caused by genetic changes that are inherited in an X-linked pattern. It is linked to mutations in the POU3F4 gene, which is important for the proper development of the inner ear. The genetic nature of this disease means that males have a higher risk of severe symptoms, while females who carry one copy of the mutation might experience milder hearing loss.

Information about treatment is currently limited for this condition.

The outlook for people with this condition can vary. Males often experience severe hearing loss while female carriers may have milder symptoms. Detailed long-term prognosis information is limited, and outcomes can differ based on individual factors and the severity of the inner ear anomalies.

Information about current research is currently limited for this condition.