PERRAULT SYNDROME: THE GENETIC PUZZLE

Abstract

Perrault syndrome (PS) is a rare and complex hereditary disorder characterized by sensorineural hearing loss (SNHL) and ovarian dysfunction, affecting both males and females. Named after French physician Louis-Charles Perrault, who first described it in 1951, PS manifests through many symptoms. Key genetic contributors include mutations in HSD17B4, HARS2, CLPP, LARS2, ERAL1, and TWNK, all associated with mitochondrial dysfunction. These genetic anomalies impact mitochondrial energy production, DNA maintenance, and cellular homeostasis, leading to symptoms of SNHL, ovarian dysfunction, and neurological abnormalities. This literature review explores the clinical presentations, genetic pathways, diagnostic challenges, and current treatment approaches for PS.
Methods: We conducted a comprehensive literature search for this literature review from April to June 2024 using PubMed and Google Scholar. Keywords included: Perrault syndrome, sensorineural hearing loss, ovarian dysfunction, primary ovarian insufficiency, HSD17B4, HARS2, CLPP, LARS2, ERAL1, and TWNK.
Conclusion: PS remains poorly understood due to its rarity and heterogeneity. This review highlights the importance of multidisciplinary approaches in diagnosis and management, considering the physical and psychological impacts on patients and their families. The necessity for increased research efforts, improved clinical awareness, and comprehensive care strategies is emphasized to better understand and treat this enigmatic condition.