Overview
Pendred's syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss and goiter, resulting from mutations in the PDS gene located on chromosome 7q22-q31, which encodes a chloride-iodide transporter 1.Diagnosis
Genetic Testing: Sequencing of the PDS gene to identify mutations such as S133T, V138F, Y530H, E384G 1.
Hearing Assessment: Audiometry to confirm congenital sensorineural hearing loss 1.
Thyroid Function Tests: Evaluation of thyroid function and imaging (e.g., ultrasound) to assess goiter 1.
Haplotype Analysis: Useful in identifying founder mutations like V138F in specific populations 1.Management
Hearing Loss: Early fitting of hearing aids and consideration for cochlear implants 1.
Thyroid Dysfunction: Regular monitoring and management of hypothyroidism with levothyroxine as needed 1.
Iodine Supplementation: Avoid in regions with endemic iodine deficiency to prevent exacerbation of goiter 1.Special Populations
Pregnancy: Monitor thyroid function closely due to increased demands; levothyroxine dose adjustments may be necessary 1.
Pediatrics: Early intervention with hearing aids and developmental support 1.Key Recommendations
Genetic testing of the PDS gene should be performed to identify specific mutations in patients with clinical features of Pendred's syndrome (Evidence: Strong 1).
Regular thyroid function monitoring and appropriate levothyroxine therapy are essential for managing hypothyroidism associated with Pendred's syndrome (Evidence: Moderate 1).
Early fitting of hearing aids and consideration of cochlear implants should be considered for managing sensorineural hearing loss in affected individuals (Evidence: Moderate 1).References
1 Borck G, Roth C, Martiné U, Wildhardt G, Pohlenz J. Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. The Journal of clinical endocrinology and metabolism 2003. link