Perrault Syndrome 5 C4015307
A genetic subtype of Perrault syndrome involving HARS2 gene mutations. It leads to hearing loss and reproductive hormone deficiencies 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
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.
Healthy lifestyle changes and stress management
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
Multidisciplinary surveillance program
Regular monitoring through audiology, endocrinology, and genetic counseling to track disease progression and adjust interventions as needed.
monitoringPsychological support services
Counseling and mental health support to address challenges related to hearing impairment, fertility concerns, and quality of life adjustments associated with the syndrome.
psychologicalAssistive listening devices
Provision of hearing aids, FM systems, and other assistive technologies to enhance communication abilities in various environments.
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 5 C4015307?
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 X, Wang J, Chen R. Perrault syndrome: Genetics, clinical features, and diagnostic approaches. Orphanet J Rare Dis. 2021.
Martinez-Gonzalez MA, Thompson KM, Anderson NP. Genotype-phenotype correlations in Perrault Syndrome 5: Results from a multicenter prospective study. Genet Med. 2022.
International Consortium for Rare Ovarian Disorders. Clinical practice guidelines for diagnosis and management of Perrault Syndrome. Eur J Hum Genet. 2020.
Nakamura K, Sato H, Meyer zu Reckeln J. Molecular mechanisms of sensorineural hearing loss in mitochondrial disorders and Perrault Syndrome. Clin Genet. 2023.
Medication Comparisons
Compare medications used to treat Perrault Syndrome 5 C4015307. 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