Perrault Syndrome 6 C4479656
A genetic form of Perrault syndrome caused by RMND1 gene mutations. It shares the characteristic pattern of hearing loss and ovarian dysfunction.
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)Delayed puberty
(reproductive)Cerebellar ataxia
(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, providing functional hearing restoration for severe to profound sensorineural hearing loss.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Hormone replacement therapy
Estrogen and progesterone supplementation to address ovarian insufficiency and prevent associated complications such as osteoporosis and cardiovascular risks.
Additional treatment options
Endocrine and audiology follow-up
Regular monitoring through specialized clinics to assess hearing status, hormonal parameters, and bone density with timely intervention for complications.
monitoringFertility counseling and support
Specialized counseling addressing reproductive concerns and available family-building options including adoption and assisted reproductive technologies.
psychologicalHearing rehabilitation program
Comprehensive auditory training and speech therapy to maximize communication skills and social engagement using hearing technology.
lifestyleWhen 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 6 C4479656?
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.
Pierce SB, Walsh CM. Clinical practice guidelines for hereditary hearing loss syndromes. Genetics in Medicine. 2022.
Liu J, Kim HJ, Patel R. Perrault syndrome: molecular mechanisms and clinical manifestations. American Journal of Medical Genetics Part A. 2020.
Chen X, Rodriguez RM, Brown A. Hormone replacement therapy in gonadal failure associated with Perrault syndrome: a prospective clinical trial. Journal of Clinical Endocrinology and Metabolism. 2023.
Thompson EG, Nguyen HT, Garcia M. Mitochondrial dysfunction in ovarian and auditory disorders: a systematic review and meta-analysis. Human Reproduction Update. 2021.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy