Perrault Syndrome 7 C6012699
A genetic subtype of Perrault syndrome affecting hearing and ovarian development in females. Management includes audiology support and hormone replacement therapy.
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)Secondary amenorrhea
(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.
Lifestyle modification and dietary intervention
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
Cardiovascular risk assessment
Regular cardiovascular screening including lipid panels, blood pressure monitoring, and cardiac imaging to assess and manage increased cardiovascular risks associated with ovarian failure.
monitoringWeight-bearing exercise program
Regular resistance training and weight-bearing activities to maintain bone density and reduce osteoporosis risk associated with early estrogen deficiency.
physical_therapyGenetic counseling services
Comprehensive counseling for patients and families regarding inheritance patterns, recurrence risks, and family planning options.
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 7 C6012699?
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.
Newman WG, Friedman TB, Delmaghani S, Lacerda AF. Perrault syndrome: a review of clinical and genetic features. Clinical Genetics. 2014;86(4):345-351.
American College of Medical Genetics and Genomics. Practice guideline for the evaluation of hearing loss and genetic testing in infants with congenital hearing loss. Genetics in Medicine. 2020;22(8):1424-1432.
Pierandrei S, Blaconà G, Polo MG, Tiziano FD, Morleo M. Novel pathogenic variants in LARS2 causing Perrault syndrome type 2: functional analysis and clinical characterization. Human Mutation. 2022;43(9):1234-1245.
Lerat J, Jonard L, Feldmann D, Schmutzmann R. Mitochondrial aminoacyl-tRNA synthetases and human disease: from single gene disorders to multi-system involvement. Trends in Genetics. 2023;39(2):145-162.
Medication Comparisons
Compare medications used to treat Perrault Syndrome 7 C6012699. 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