Perrault syndrome

Common Name(s)

Perrault syndrome, Ovarian dysgenesis 1, Gonadal Dysgenesis, XX Type

Ovarian dysgenesis is the loss of eggs cells and their support cells when the ovaries develop abnormally or do not develop at all. Ovaries are two walnut sized glands, one on each side of a woman’s uterus. Ovaries produce egg cells as well as female hormones (estrogen and progesterone).

Perrault syndrome is a genetic disorder that results in ovarian dysgenesis in women. This often leads to infertility and to hearing loss from changes in the inner ear (sensorineural hearing loss). Hearing loss happens in both ears and can worsen over time. Perrault syndrome can in some cases also have neurological symptoms (symptoms having to do with the brain and signaling the body’s actions) including trouble with balance and coordination, loss of feeling in arms and legs, and intellectual disability.

Perrault syndrome in women is usually diagnosed around age 22 after a delay in puberty. This delay is signaled by a young woman never getting her period. In less severe cases of Perrault syndrome, premature ovarian failure occurs, which is when a woman stops having her period before age 40.

Some genetic causes of Perrault syndrome have been identified, but not all causes are known. This disorder is diagnosed by the physical symptoms in women with a typical number of chromosomes (46, XX). Other causes, such as Turner syndrome (45, X chromosomes), are ruled out. Some diagnoses can be confirmed by genetic testing. Some Perrault syndrome hearing loss can be managed with help from an audiologist and otolaryngologist, and an endocrinologist can assist with hormone therapy. If you have been diagnosed with Perrault syndrome, talk to your doctor about the most current treatment options available. In addition, a genetic counselor can help discuss inheritance and risks to other family members. Support groups are available for more resources and information.

Source: Advocacy organizations associated with the condition.

 

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Condition Specific Organizations

Following organizations serve the condition "Perrault syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Perrault syndrome" returned 9 free, full-text research articles on human participants. First 3 results:

A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.
 

Author(s): Kui Chen, Ke Yang, Su-Shan Luo, Chen Chen, Ying Wang, Yi-Xuan Wang, Da-Ke Li, Yu-Jie Yang, Yi-Lin Tang, Feng-Tao Liu, Jian Wang, Jian-Jun Wu, Yi-Min Sun

Journal:

 

Perrault syndrome is a rare multisystem disorder that manifests with sensorineural hearing loss in both sexes, primary ovarian insufficiency in females and neurological features. The syndrome is heterogeneous both genetically and phenotypically.

Last Updated: 23 Aug 2017

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Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.
 

Author(s): Monika Ołdak, Dominika Oziębło, Agnieszka Pollak, Iwona Stępniak, Michal Lazniewski, Urszula Lechowicz, Krzysztof Kochanek, Mariusz Furmanek, Grażyna Tacikowska, Dariusz Plewczynski, Tomasz Wolak, Rafał Płoski, Henryk Skarżyński

Journal:

 

Hearing loss and ovarian dysfunction are key features of Perrault syndrome (PRLTS) but the clinical and pathophysiological features of hearing impairment in PRLTS individuals have not been addressed. Mutations in one of five different genes HSD17B4, HARS2, LARS2, CLPP or TWNK (previous ...

Last Updated: 9 Feb 2017

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A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.
 

Author(s): Fatma Dursun, Hussein Sheikh Ali Mohamoud, Noreen Karim, Muhammad Naeem, Musharraf Jelani, Heves Kırmızıbekmez

Journal: J Clin Res Pediatr Endocrinol. 2016 12;8(4):472-477.

 

Perrault syndrome (PRLTS) is a heterogeneous group of clinical and genetic disorders characterized by sensory neuronal hearing loss in both sexes and premature ovarian failure or infertility in females. Neurological and hearing loss symptoms appear early in life, but female infertility ...

Last Updated: 18 Apr 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Perrault syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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