SlovakiaDiagnosis and screening
Gene testing in 37 patients in Slovakia: cause found in one third with Pendred syndrome or a widened inner ear canal
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In Slovakia, 37 patients with a widened inner ear canal or Pendred syndrome were studied. A genetic cause of hearing loss was found in 13 patients. Seven of them had Pendred syndrome. Three new changes were found in the SLC26A4 gene. In those with changes in both copies of the gene, the thyroid gland was larger.
What does it mean for patients and families?
In Pendred syndrome, hearing and the thyroid should be monitored together. Gene testing may not always find the cause. The results are useful in genetic counseling.
Source
Scientific paper: Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome. Molecular Medicine, 2025. DOI: 10.1186/s10020-025-01262-x · PubMed 40426046
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Pendred syndrome
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.