Management
Hearing loss should be assessed and treated by a multidisciplinary team including an audiologist and otolaryngologist. Interventions for those with hearing loss include special educational resources, hearing aids, vibrotactile devices, and cochlear implantation. Cochlear implantation is an option for children older than 12 months with severe-to-profound hearing loss.
Primary amenorrhea is treated in adolescents in collaboration with a paediatric endocrinologist in the usual manner, first to induce puberty and then to mimic the menstrual cycle and maintain bone health. Assisted reproduction through in vitro fertilization using donor eggs is a consideration for women with gonadal dysgenesis; oocyte cryopreservation can be considered in women at risk for POI.
Neurologic assessment should be performed to determine if ataxia, peripheral neuropathy, and/or learning disability is present.
Surveillance
Routine audiological assessment for possible progressive hearing impairment. This is not required for individuals with profound hearing loss.
Women on maintenance oestrogen replacement therapy should be monitored for withdrawal bleeding, well-being and bone density.
Progression of neurological features, if present, should be monitored.