Pendreds Pendred Syndome Deficiency of Pendrin Causes Symptoms Diagnosis and Treatment











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Pendred's Syndrome is a genetic disorder that causes early hearing loss in children and can also affect the thyroid gland and sometimes creates problems with balance. Here are some other points about Pendred's Syndrome : • *Causes*: Pendred syndrome can be caused by changes, or mutations, in a gene called SLC26A4 (formerly known as the PDS gene) on chromosome 7. • *Diagnosis*: Pendred syndrome can be diagnosed by an otolaryngologist (a doctor who specializes in diseases of the ear, nose, throat, head, and neck) or a clinical geneticist who will consider hearing loss, inner ear structures, and sometimes the thyroid in diagnosing Pendred syndrome. • *Treatment*: Treatment options for Pendred syndrome are available. Because the syndrome is inherited and can involve thyroid and balance problems, many specialists may be involved in treatment, including a primary care physician, an audiologist, an endocrinologist, a clinical geneticist, a genetic counselor, an otolaryngologist, and a speech-language pathologist. • *Prevention*: To reduce the likelihood of hearing loss progression, children and adults with Pendred syndrome should avoid contact sports that might lead to head injury; wear head protection when engaged in activities such as bicycle riding and skiing that might lead to head injury; and avoid situations that can lead to barotrauma (extreme, rapid changes in pressure), such as scuba diving or hyperbaric oxygen treatment. • *Prognosis*: Pendred syndrome isn’t curable, but a medical team will work together to encourage informed choices about treatment options. They also can help people prepare for increased hearing loss and other possible long-term consequences of the syndrome. • #Pendredsyndrome

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