Living with Perrault syndrome
A rare inherited condition with hearing loss in males and females and ovary problems in females.
Understanding Perrault syndrome
Hearing loss from the inner ear is a key feature. It may be present at birth or begin in early childhood and often worsens over time. Females have abnormal or missing ovaries, which can mean no periods or an early end to periods, and difficulty having biological children. Some males and females have nerve and balance problems or intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss (sensorineural)
- Abnormal or missing ovaries in females
- No periods by age 16 (primary amenorrhea)
- Early loss of ovary function
- Small uterus
- Higher gonadotropin hormone levels
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, genetic specialists, hormone specialists and maternal-fetal medicine specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Resolve: The National Infertility Association, United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related)
- Expert care
- Expert lists: Resolve: The National Infertility Association, United Mitochondrial Disease Foundation, MitoAction
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CureARS and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the genes (also called variants) cause this condition. GARD lists autosomal recessive and mitochondrial inheritance and doesn't name a specific gene.
Also known as: gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance; gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance; xx gonodal dysgenesis-deafness syndrome; xx gonodal dysgenesis-hearing loss syndrome
Patient organizations
- CureARSPerrault syndrome · United States
- Resolve: The National Infertility AssociationInfertility · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Perrault syndrome.
Explore research for Perrault syndrome
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