Diagnosis and Management of Pendred Syndrome in Pediatric Patients: A Systematic Review.
DOI:
https://doi.org/10.36557/2674-8169.2025v7n11p1926-1939Keywords:
Pendred Syndrome, hearing loss, diagnosis, cochlear implant, multidisciplinary management.Abstract
Introduction: Pendred Syndrome (PS) is a genetic disorder that combines sensorineural hearing loss, goiter, and thyroid abnormalities. Diagnosing it in pediatric patients is challenging due to its variable clinical presentation. Objective: To analyze the evidence on the diagnosis and management of PS in children, focusing on audiological and endocrinological interventions. Methodology: Following PRISMA guidelines, a PubMed search was conducted to select relevant original studies from 2015 to 2025. Studies that evaluated the clinical and genetic diagnosis of PS and its treatment were included, excluding reviews and non-relevant studies. Results: Severe hearing loss is common, and cochlear implantation is a key intervention that improves speech perception and quality of life. However, thyroid presentation is variable, requiring endocrinological monitoring. An integrated audiological assessment, imaging, and genetic analysis are crucial for timely diagnosis due to the clinical and genetic heterogeneity of PS. Discussion: The discussion highlights clinical heterogeneity and diagnostic challenges, emphasizing the importance of a comprehensive evaluation combining imaging, genetics, and audiology. Multidisciplinary management is crucial for both auditory rehabilitation and endocrinological follow-up. Conclusion: The detection and management of PS in pediatric endocrinology are complex but essential for optimizing auditory and overall health outcomes. Evidence suggests the need for comprehensive and collaborative protocols; early cochlear implant placement in children with severe hearing loss and constant endocrinological follow-up are recommended.
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Copyright (c) 2025 Claudia Carolina Calderón Riccardi , Paola Giomar Luna Rodríguez , Stefany Alejandra Intriago Pérez, Yuliana Lisbeth Merino Jiménez, Karina Rossana Lainez Quinde
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