Marianna MANUELLI, Andrea MIGLIORELLI, Chiara BIANCHINI, Francesco STOMEO, Daniele MONZANI, Stefano PELUCCHI, Silvia PALMA, Andrea CIORBA
The Journal of International Advanced Otology - 2026;22(3):1-6
BACKGROUND: Pendred syndrome (PS) is one of the main causes of congenital hearing loss and is estimated to be the cause of 4-7.5% of hereditary deafness cases worldwide. Pendred syndrome is an autosomal recessive disorder associated with alterations in the SLC26A4 gene characterized by sensorineural hearing loss and goiter. The aim of the study is to compile a review providing an accurate and updated description of the audiological features of PS, offering clinicians a practical tool for a feasible and early diagnosis. METHODS: A detailed review of the English literature to date on hearing loss and PS has been performed using Pubmed, Scopus, Google Scholar and Medline databases. The literature review was performed using the guidelines proposed by the study "Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA)" for scoping review. RESULTS: A total of 13 full text articles were included in this review, collecting 75 patients with PS. The audiological outcomes, clinical variants, presence of enlarged vestibular aqueduct and Mondini dysplasia, and thyroid status were described for each patient. CONCLUSIONS: Pendred syndrome is a condition in which hearing loss is among the main features and can manifest at early stages, eventually impacting children's language development. Pendred syndrome may occur in different clinical variants, which can make diagnosis challenging. It is therefore crucial for clinicians to have a detailed knowledge of the condition. Further studies on large, multicenter case series will therefore be essential to expand knowledge of the disease and enable multidisciplinary development of care.
