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....
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Discussion
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Audiologists managing patients with Pendred syndrome should anticipate variable, often progressive, sensorineural hearing loss and potential vestibular involvement; this review consolidates existing evidence but does not establish new clinical protocols.
Pendred syndrome is among the most prevalent genetic causes of congenital deafness, and a comprehensive audiological characterization supports earlier identification, genetic counseling, and tailored hearing intervention.
- 01Scoping review synthesizes audiological findings across published literature on Pendred syndrome.
- 02Pendred syndrome accounts for 4–7.5% of hereditary deafness worldwide, making it clinically significant.
- 03Hearing loss in Pendred syndrome is typically sensorineural (inner-ear type), often bilateral, and may be progressive.
- 04Vestibular (balance) dysfunction frequently co-occurs with hearing loss in this condition.
- 05Review highlights gaps in standardized audiological protocols for this population.
Pendred syndrome is responsible for 4–7.5% of hereditary deafness cases worldwide.
studysupportedAudiological features of Pendred syndrome are insufficiently standardized in clinical practice.
studypartially supported- PMID
- 42732627
- DOI
- 10.65717/iao.2026.262401.
- Journal
- International Archives of Otorhinolaryngology
- Publication type
- review
- Evidence level
- 2a
- Population
- Individuals with Pendred syndrome across published studies
- Intervention
- Audiological assessment and characterization
Primary outcomes
Type, degree, and progression of hearing loss; Vestibular function findings; Audiological feature mapping across Pendred syndrome literature