Endocrine Abstracts

Enlarged vestibular aqueduct (EVA) is the most common malformation of inner ear associated with sensorineural hearing loss. It can either be found in nonsyndromic or in syndromic forms of hearing loss, such as Pendred syndrome (PS). In PS, sensorineural deafness is associated with thyroid abnormalities: goitre and iodine organification defect detected with perchlorate discharge test. Mutations in SLC26A4 (PDS) gene cause PS and can also be found in a proportion of patients pre...