These sources collectively examine Pendred syndrome, a rare genetic condition defined by permanent hearing loss and thyroid goitre. Research identifies mutations in the SLC26A4 gene, which encodes the ion-transporting protein pendrin, as the primary cause of this disorder and related non-syndromic deafness. Diagnostic methods include genetic sequencing, imaging for inner ear malformations like enlarged vestibular aqueducts, and the perchlorate discharge test. Scientific studies highlight a genotype-phenotype correlation, suggesting that patients with biallelic mutations often experience earlier and more severe auditory decline. Beyond hearing and thyroid issues, the texts note rare but critical complications such as life-threatening metabolic alkalosis. Management options discussed include cochlear implantation, which has proven effective for improving communication in affected children.
