Perrault Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Perrault Syndrome?
A primary care doctor is often the first stop and can refer the patient to the right specialists. Care usually involves an ear, nose, and throat doctor and an audiologist. Females may also see an endocrinologist or a reproductive health doctor. A genetic counselor can help families understand how the condition is inherited.
What is Perrault syndrome?
Perrault syndrome is a rare genetic condition passed down through changes in genes, the instructions people inherit from their parents. It mainly affects hearing and the reproductive system. People are born with it, and signs can show up at different ages.
Perrault syndrome causes hearing loss present from birth or starting in childhood. In people assigned female at birth, it also affects the ovaries, which release eggs and make hormones. The ovaries may stop working early, a problem called primary ovarian insufficiency. People assigned male at birth usually have only the hearing loss.
Symptoms
The most common sign is hearing loss, which can range from mild to complete and often affects both ears. In females, other signs can include a delay in the first period, periods that stop, trouble getting pregnant, and early menopause. Some people also have less common nervous system problems, such as muscle weakness or trouble with balance.
Causes and who gets it
Perrault syndrome happens when a child inherits changed copies of certain genes from both parents. Each parent carries one changed gene but usually has no symptoms, so parents often do not know they carry it until a child is diagnosed.
How doctors diagnose it
Doctors start with a health history and physical exam. A hearing test called an audiogram checks how well someone hears different sounds. Blood tests can check hormone levels, and an ultrasound can take pictures of the ovaries. Genetic testing, using a blood or saliva sample, can confirm the diagnosis and often involves both parents.
Treatment
There is no cure, but treatments can help with symptoms. Hearing loss is often managed with hearing aids, and some people benefit from cochlear implants, which send sound signals to the hearing nerve. For females with ovarian problems, hormone replacement therapy can help start or maintain periods and protect bone health. Doctors may also suggest fertility treatments.
When to see a doctor
Anyone with hearing loss in childhood or early adulthood should see a doctor, especially if other family members have hearing problems. Girls who have not started their period by age 15, or whose periods stop early, should also be checked.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually costs more and often works alongside insurance. Either one can spend extra time coordinating care for a rare condition, order tests, and follow up closely.
Common questions
Can Perrault syndrome be cured?
There is no cure, but treatments can help with symptoms. Hearing aids or cochlear implants can improve hearing, and hormone replacement therapy can help females with ovarian problems.
How is Perrault syndrome inherited?
A child must inherit changed copies of certain genes from both parents. Each parent carries one changed gene but usually has no symptoms, so parents often do not know they carry it.
Sources
- NIH Genetic and Rare Diseases Information Center - Perrault syndrome
- MedlinePlus - Perrault syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
