Perrault syndrome 4 is an autosomal recessive disorder that causes progressive sensorineural hearing loss in both males and females as well as premature ovarian failure in females. Hearing loss is more severe at lower frequencies and becomes milder at higher frequencies. This results in unusual upsloping audiograms. In females, ovarian failure is accompanied by increased gonadotropin levels. Patients may have a small prepubertal sized uterus and hypoplastic ovaries.
Prognosis of the disorder appears positive and patients affected by Perrault syndrome have a normal life expectancy. Perrault syndrome is a rare condition with less than 100 cases reported worldwide. However, the disorder is often underdiagnosed as in the absence of an affected sister, male patients are simply assumed to suffer from non-syndromic hearing loss.
Diagnosis is made based on hormone levels, pelvic ultrasound examinations and CT scans to ensure hearing loss is not caused by temporal bone malformations. Treatment requires a multidisciplinary approach involving audiologists and endocrinologists. Patients may benefit from hearing aids and cochlear implants.