Ovarian dysgenesis is the loss of eggs cells and their support cells when the ovaries develop abnormally or do not develop at all. Ovaries are two walnut sized glands, one on each side of a woman’s uterus. Ovaries produce egg cells as well as female hormones (estrogen and progesterone).
Perrault syndrome is a genetic disorder that results in ovarian dysgenesis in women. This often leads to infertility and to hearing loss from changes in the inner ear (sensorineural hearing loss). Hearing loss happens in both ears and can worsen over time. Perrault syndrome can in some cases also have neurological symptoms (symptoms having to do with the brain and signaling the body’s actions) including trouble with balance and coordination, loss of feeling in arms and legs, and intellectual disability.
Perrault syndrome in women is usually diagnosed around age 22 after a delay in puberty. This delay is signaled by a young woman never getting her period. In less severe cases of Perrault syndrome, premature ovarian failure occurs, which is when a woman stops having her period before age 40.
Some genetic causes of Perrault syndrome have been identified, but not all causes are known. This disorder is diagnosed by the physical symptoms in women with a typical number of chromosomes (46, XX). Other causes, such as Turner syndrome (45, X chromosomes), are ruled out. Some diagnoses can be confirmed by genetic testing. Some Perrault syndrome hearing loss can be managed with help from an audiologist and otolaryngologist, and an endocrinologist can assist with hormone therapy. If you have been diagnosed with Perrault syndrome, talk to your doctor about the most current treatment options available. In addition, a genetic counselor can help discuss inheritance and risks to other family members. Support groups are available for more resources and information.