Perrault syndrome 2
Summary
Excerpted from the GeneReview:Perrault syndrome is characterized by sensorineural hearing loss (SNHL) in males and females and ovarian dysfunction in females. SNHL is bilateral and ranges from profound with prelingual (congenital) onset to moderate with early-childhood onset. When onset is in early childhood, hearing loss can be progressive. Ovarian dysfunction ranges from gonadal dysgenesis (absent or streak gonads) manifesting as primary amenorrhea to primary ovarian insufficiency (POI) defined as cessation of menses before age 40 years. Fertility in affected males is reported as normal (although the number of reported males is limited). Neurologic features described in some individuals with Perrault syndrome include learning difficulties and developmental delay, cerebellar ataxia, and motor and sensory peripheral neuropathy.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- William G Newman
- Thomas B Friedman
- Gerard S Conway
- view full author information
Available tests
36 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (36 available)
Clinical features
Help- Abnormality of the genitourinary system
- Amenorrhea
Amenorrhea
- MedGen UID: 8016
- Concept ID: C0002453
- Finding: Finding
Abnormality of the genitourinary system
- Streak ovary
Streak ovary
- MedGen UID: 78597
- Concept ID: C0266371
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Amenorrhea
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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