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Perrault syndrome
ICD-10 Codes
Related ICD-10:
Description
Perrault syndrome is a rare genetic condition that affects both males and females, but presents differently in each sex.
Symptoms in Males and Females
- Sensorineural hearing loss (SNHL) is a common symptom in both males and females with Perrault syndrome [1][2].
- In females, the condition also causes ovarian dysfunction, which can lead to infertility and other reproductive issues [3].
- The severity of symptoms can vary greatly among affected individuals, even within the same family [4].
Characteristics
- Perrault syndrome is a sex-influenced condition, meaning that both males and females have sensorineural hearing deficits and neurodegenerative disease (both central and peripheral) [5].
- It is an autosomal-recessive disorder, which means that affected individuals inherit two copies of the mutated gene, one from each parent [6].
Other Information
- Perrault syndrome is a rare condition, with limited information available on its prevalence and treatment options.
- Research suggests that the condition may be associated with other genetic disorders, but more studies are needed to confirm this.
References:
[1] Dec 1, 2014 — Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. [5] [2] by WG Newman · 2018 · Cited by 68 — Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. [3] [3] A rare genetic disease characterized by a clinical picture of variable severity associating sensorineural hearing impairment with ovarian dysgenesis in females. [4] [4] Learn about Perrault Syndrome, including symptoms, causes, and treatments. If you or a loved one is affected by this condition, visit NORD to find ... [5] [5] Dec 1, 2014 — Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. [6] [6] by M Domínguez-Ruiz · 2019 · Cited by 22 — Perrault syndrome is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing impairment and ovarian dysgenesis in ...
Additional Characteristics
- Ovarian dysfunction
- Sensorineural hearing loss (SNHL)
- Neurodegenerative disease (central and peripheral)
- Infertility
- Reproductive issues
Signs and Symptoms
Perrault syndrome is a rare genetic disease that affects both males and females, characterized by sensorineural hearing loss and ovarian dysfunction in females.
Key Features:
- Sensorineural hearing loss (SNHL) in both males and females [3][4]
- Ovarian dysfunction in females, including ovarian dysgenesis or premature ovarian failure [2][8]
- Hearing loss is a key feature of this condition, occurring in both sexes [1][7]
Additional Symptoms:
- In females, the symptoms may also include:
- Abnormalities of the ovaries, such as missing ovaries or ovaries that stop working properly [
Additional Symptoms
- Ovarian dysfunction
- Sensorineural hearing loss
- Abnormalities of the ovaries
- Premature ovarian failure
Diagnostic Tests
Perrault syndrome can be diagnosed through various genetic tests, which are essential for confirming the condition and ruling out other possible causes of sensorineural hearing loss and ovarian dysfunction.
- Genetic testing: This is a useful tool to confirm a tentative clinical diagnosis of Perrault syndrome. The genetic cause remains unidentified in approximately 60% of patients with Perrault syndrome to date [15]. Genetic testing can identify pathogenic variants in one of six genes: CLPP, ERAL1, HARS2, HSD17B4, LARS2, or TWNK [4].
- Targeted mutation analysis: This test is used to analyze specific mutations in the HARS2 gene associated with Perrault syndrome [7].
- Mutation scanning/screening and sequence analysis of selected exons: This test involves analyzing the DNA sequence of specific regions (exons) of genes that are suspected to be involved in Perrault syndrome [7].
- Sequence analysis: This test is used to analyze the entire gene or a specific region of interest, such as the HSD17B4 gene associated with Perrault syndrome [6].
- Comprehensive genomic testing: This is the best option when the diagnosis of Perrault syndrome has not been considered because an individual has atypical phenotypic features. Exome sequencing is the most commonly used genomic testing method; genome sequencing is also possible [10].
It's essential to note that genetic testing can help families get diagnosed earlier and access the right care and support sooner, as it can inform decisions about reproductive options and prenatal testing for pregnancies at increased risk [9].
Additional Diagnostic Tests
- Genetic testing
- Targeted mutation analysis
- Sequence analysis
- screening and sequence analysis of selected exons
- Comprehensive genomic testing
Treatment
Treatment Options for Perrault Syndrome
Perrault syndrome, a rare genetic disorder, can be challenging to treat due to its complex nature. However, various treatment options are available to manage the symptoms and improve the quality of life for affected individuals.
- Hormone Replacement Therapy (HRT): HRT is often recommended to address ovarian dysfunction in females with Perrault syndrome. This therapy involves administering estrogen and progesterone to stimulate ovulation and regulate menstrual cycles [6].
- Calcium and Vitamin D Supplements: Calcium and vitamin D supplements may be prescribed to prevent bone density loss, a common complication of premature ovarian failure [8].
- Psychological Support: Emotional support is essential for individuals with Perrault syndrome, as they often experience anxiety, depression, or other mental health concerns. A supportive network of family, friends, and healthcare professionals can help alleviate these symptoms.
- Rehabilitation Therapy: Rehabilitation therapy may be necessary to address sensorineural hearing loss in both males and females with Perrault syndrome [1].
- Gene Therapy: Research is ongoing to explore gene therapies for Perrault syndrome. For example, AK-OTOF, a gene therapy intended for the treatment of otoferlin gene-mediated hearing loss, has shown promise [7].
Experimental Treatments
Recent studies have investigated potential treatments for Perrault syndrome, including:
- Imipridone Compounds: Imipridone compounds may improve hearing and fertility in a subset of Perrault syndrome patients [5].
- Drug Therapy: Treatment with specific drugs, such as those mentioned in Bonner et al. (2020), may be explored to address the symptoms of Perrault syndrome.
It is essential to consult with a healthcare professional for personalized guidance on managing Perrault syndrome. They can help determine the most effective treatment plan based on individual needs and circumstances.
References:
[1] Sep 9, 2021 - Perrault syndrome is a rare genetic disorder which causes sensorineural hearing loss in both males and females and ovarian dysfunction in females. [5] Bonner et al. (2020). We further speculate that imipridone compounds may improve hearing and fertility in a subset of Perrault syndrome patients. [6] Estrogen and progesterone therapy is usually then commenced. Some cases are considered a severe version of premature ovarian failure where the ovaries fail ... [7] AK-OTOF, a gene therapy intended for the treatment of otoferlin gene-mediated hearing loss. The positive opinion was subsequently adopted by the European ... [8] Management should include hormone replacement therapy. Calcium and vitamin D supplements may also be proposed. Psychological support should also be offered to ...
Recommended Medications
- Gene Therapy
- Rehabilitation Therapy
- Hormone Replacement Therapy (HRT)
- Calcium and Vitamin D Supplements
- Imipridone Compounds
- Drug Therapy
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Perrault Syndrome
Perrault syndrome, a rare autosomal recessive condition, presents with moderate to severe sensorineural hearing loss at birth in both males and females [6]. In females, the condition is further characterized by abnormalities of the ovaries (ovarian dysgenesis) [7].
The differential diagnosis for Perrault syndrome includes:
- Turner Syndrome: This genetic disorder affects females and is characterized by short stature, infertility, and heart defects. Approximately 1/2 of Turner patients have some degree of hearing loss [4].
- Other Genetic Conditions: While rare, other genetic conditions such as BOR (Bronchiootorenal) syndrome may also present with similar symptoms.
Key Features to Distinguish Perrault Syndrome from Other Conditions
To accurately diagnose Perrault syndrome, it is essential to consider the following key features:
- Early-Onset Hearing Loss: Sensorineural hearing loss in both males and females, often present at birth or beginning in early childhood [5].
- Ovarian Dysgenesis: Abnormalities of the ovaries in females, which can lead to infertility [7].
- Normal 46,XX Chromosome Set: Individuals with Perrault syndrome have a normal 46,XX chromosome set, distinguishing it from Turner syndrome [5].
Conclusion
In conclusion, differential diagnosis for Perrault syndrome involves considering other genetic conditions such as Turner syndrome and BOR syndrome. Accurate diagnosis relies on identifying key features such as early-onset hearing loss, ovarian dysgenesis, and a normal 46,XX chromosome set.
References:
[4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7
Additional Differential Diagnoses
- Other Genetic Conditions (BOR syndrome)
- Turner syndrome
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