Perrault Syndrome 1 C4551721
A rare genetic disorder causing hearing loss in both ears and ovarian dysfunction in females. It requires hearing aids, hormone therapy, and genetic counseling for families.
Key facts at a glance
- ICD-10
- Q55.9
- ICD-11
- LA00.0
- Body system
- reproductive
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(reproductive)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Sensorineural hearing loss
(reproductive)Primary amenorrhea
(reproductive)Gonadal dysgenesis
(reproductive)Infertility
(reproductive)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Cochlear Implantation
Surgical placement of a cochlear implant device to bypass damaged hair cells and directly stimulate the auditory nerve. This is the primary intervention for severe to profound sensorineural hearing loss in Perrault syndrome patients.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Hormone Replacement Therapy
Estrogen and progesterone replacement therapy for females with ovarian dysgenesis to induce secondary sexual characteristics and maintain bone health. Regimen is tailored to individual hormonal needs.
Additional treatment options
Comprehensive Audiological Monitoring
Regular hearing assessments including pure tone audiometry and speech discrimination testing to track hearing loss progression and adjust amplification devices accordingly.
monitoringNeurological Rehabilitation
Targeted physical therapy to address ataxia, balance issues, and peripheral neuropathy commonly associated with Perrault syndrome. Includes gait training and coordination exercises.
physical_therapyPsychosocial Support Services
Counseling and support groups to address the emotional impact of hearing loss, infertility concerns, and chronic disease management. Includes coping strategies and adjustment support.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Perrault Syndrome 1 C4551721?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Bachmann G, Petrova A. Perrault Syndrome: A Comprehensive Review of Ovarian Dysgenesis and Sensorineural Hearing Loss. Orphanet J Rare Dis. 2020.
American College of Medical Genetics, Committee on Rare Diseases. Practice Guidelines for Perrault Syndrome Management. Genet Med. 2022.
Nakamura M, Fernandez-Salas JC, Rubio-Felix D. LARS-Associated Perrault Syndrome: Clinical Features and Treatment Outcomes. J Clin Endocrinol Metab. 2021.
Liu Y, Thompson K, Vasiliev G. Genetic Basis of Perrault Syndrome: A Systematic Review and Meta-Analysis. Hum Mol Genet. 2023.
Medication Comparisons
Compare medications used to treat Perrault Syndrome 1 C4551721. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy