A 6-year-old girl has bilateral sensorineural hearing loss since early childhood. She now presents with an anterior neck swelling, and thyroid function tests show a euthyroid multinodular goitre. Temporal bone CT reveals bilateral enlarged vestibular aqueducts. Which gene mutation explains this combination?
- A GJB2 (connexin 26)
- B SLC26A4 (pendrin) ✓
- C MYO7A
- D KCNQ1
Correct answer: B. SLC26A4 (pendrin)
Explanation
Pendred syndrome is autosomal recessive sensorineural hearing loss with thyroid dyshormonogenesis causing goitre, caused by SLC26A4 mutations affecting pendrin, an iodide-chloride transporter. Enlarged vestibular aqueduct with Mondini dysplasia is the characteristic temporal bone finding. MYO7A causes Usher syndrome, KCNQ1 causes Jervell and Lange-Nielsen syndrome, and GJB2 causes non-syndromic hearing loss without thyroid disease.
Reference: Cummings Otolaryngology: Head and Neck Surgery, 7th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.