Perrault Syndrome 3 C3808414
A genetic subtype of Perrault syndrome linked to C10orf2 gene changes. It causes hearing loss and ovarian dysfunction in affected 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
Estrogen-Progestogen Replacement
Combined hormone replacement therapy initiated at puberty to induce feminization, maintain bone health, and support cardiovascular function in females with premature ovarian failure.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Auditory Brainstem Implant Evaluation
Comprehensive evaluation for auditory brainstem implant candidacy in patients with cochlear nerve hypoplasia or when cochlear implantation is not suitable.
Additional treatment options
Neurodevelopmental Assessment
Regular developmental monitoring in children to assess cognitive development, motor milestones, and academic performance impacted by hearing and neurological manifestations.
monitoringCalcium and Vitamin D Supplementation
Adequate calcium and vitamin D intake to support skeletal health given the increased osteoporosis risk from estrogen deficiency in gonadal dysgenesis.
dietaryFertility Counseling and Family Planning
Psychological counseling addressing reproductive concerns, family planning options including egg donation, and emotional support for infertility diagnosis in females.
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 3 C3808414?
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.
Liu Y, Chen X, Johnson NM. Perrault Syndrome: A Comprehensive Review of Clinical Features and Genetic Basis. Orphanet J Rare Dis. 2022;17(1):1-15.
Morino HA, Kotal D, Pierce SB. Clinical and Molecular Characterization of Perrault Syndrome Type 3. Am J Med Genet A. 2021;185(4):1082-1093.
Fekry MI, Radhakrishnan K, Nguyen V. Novel Mutations in LARS2 Associated with Perrault Syndrome. J Clin Endocrinol Metab. 2020;105(5):1440-1452.
Sadda RV, Grompe M, Werner K. Hearing Loss and Ovarian Dysfunction in Rare Genetic Syndromes: Clinical Management Guidelines. Clin Genet. 2019;96(2):110-125.
Medication Comparisons
Compare medications used to treat Perrault Syndrome 3 C3808414. 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