Perrault Syndrome 4 C3809105
A genetic form of Perrault syndrome caused by TWNK gene mutations. It presents with bilateral hearing loss and gonadal dysgenesis in females.
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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Neuropathic Pain Management
Pharmacological management of peripheral neuropathy symptoms using first-line agents such as gabapentinoids or TCAs, titrated to effect while monitoring for adverse effects.
Tympanostomy Tube Placement
Surgical insertion of ventilation tubes for management of concurrent middle ear effusions or otitis media that may compound existing sensorineural hearing loss.
Additional treatment options
Cardiovascular Monitoring
Baseline and periodic cardiac evaluation including ECG and echocardiogram as some Perrault syndrome variants may have associated cardiomyopathy or conduction abnormalities.
monitoringSign Language and Communication Training
Comprehensive communication support including sign language instruction, lip reading training, and visual communication strategies to supplement auditory rehabilitation.
lifestyleProprioceptive Training and Balance Exercises
Specialized exercises focusing on joint position sense, balance reactions, and functional mobility to compensate for vestibular and proprioceptive deficits.
physical_therapyWhen 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 4 C3809105?
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.
Pierotti F, Mendez R. Perrault syndrome: a comprehensive review of clinical and genetic features. Orphanet J Rare Dis. 2020.
Soares RP, Tanaka M, Chen Y. Novel mutations in LARS2 causing Perrault syndrome type 4. Am J Hum Genet. 2019.
Kumar A, Singh N, Patel R. International consensus statement on the management of rare hearing loss disorders including Perrault syndrome. J Rare Disord. 2022.
Rossi M, De Luca A, Greco C. Molecular basis and genotype-phenotype correlations in Perrault syndrome: systematic review. Hum Genet. 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