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Hearing loss with two pathogenic SLC26A4 variants and positive thyroid autoantibody: A case report
Akinobu Miura1, Tomohiro Nakagawa1,2, Chisumi Sogi1,3
1Department of Pediatrics, Tohoku University Hospital, Sendai, Japan.
Summary
The SLC26A4 gene is linked to hearing loss and Pendred syndrome. This case highlights a potential connection between SLC26A4 variants and autoimmune thyroid disease, specifically Hashimoto's thyroiditis, in a young patient.
Area of Science:
- Genetics
- Endocrinology
- Otolaryngology
Background:
- The SLC26A4 gene is implicated in Pendred syndrome (PS) and nonsyndromic hearing loss.
- Pendred syndrome is characterized by hearing loss, vestibular aqueduct enlargement, and potential thyroid abnormalities like goiter and hypothyroidism due to iodide organification defects.
- Autoimmune thyroid disease pathophysiology differs from PS, but incidental coexistence and a potential role for SLC26A4 in autoimmune thyroid disease etiology are suggested.
