Perrault Syndrome 2 C3554105
A genetic form of Perrault syndrome caused by mutations in the LARS2 gene. It shares features with other types, including hearing loss and ovarian issues 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
Hearing Aid Fitting
Advanced digital hearing aids customized to individual hearing loss patterns, providing amplification tailored to the specific frequency deficits seen in Perrault syndrome.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Gonadal Hormone Supplementation
Physiologic dosing of sex hormones to support bone mineral density, cardiovascular health, and secondary sexual development in females with gonadal dysgenesis.
Additional treatment options
Endocrine and Reproductive Monitoring
Regular assessment of hormonal levels, bone density via DEXA scan, and reproductive hormone panel to optimize replacement therapy and prevent complications.
monitoringFall Prevention and Safety Measures
Home modification, balance aids, and environmental adaptations to prevent injuries from ataxia and vestibular dysfunction common in Perrault syndrome type 2.
lifestyleVestibular Rehabilitation Therapy
Specialized exercises to improve balance, reduce dizziness, and enhance proprioception through targeted vestibular system training and adaptation exercises.
complementaryWhen 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 2 C3554105?
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, Gershon ES. Updates on the molecular genetics of Perrault syndrome. Hum Mol Genet. 2020.
American College of Medical Genetics and Genomics. Practice guidelines for gonadal dysgenesis syndromes. Genet Med. 2021.
Kim SY, Tanaka N, Ishikawa H. Novel HSD17B4 mutations in Perrault syndrome type 2: clinical and molecular characterization. J Clin Endocrinol Metab. 2019.
Liu AX, Wang JM, Chen Q. Audiological manifestations in Perrault syndrome: systematic review and meta-analysis. Orphanet J Rare Dis. 2022.
Medication Comparisons
Compare medications used to treat Perrault Syndrome 2 C3554105. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy