Pendred syndrome is a medical condition that primarily affects hearing, balance and the thyroid gland. Often evident in early childhood, Pendred syndrome is usually characterized by hearing loss. Although a cure does not exist for Pendred syndrome, treatment options, such as cochlear implants, can help patients lead a relatively normal life and adapt to ongoing medical problems.
The condition is genetically inherited, requiring two mutated genes in order to cause symptoms. People with one mutated gene are considered carriers, but may not actually have Pendred syndrome. If a child has two parents that are both carriers, it is possible that they will inherit the condition. Some experts recommend that couples seeking to have children undergo genetic testing to determine the possibility of passing on the mutated genes that can cause the syndrome. This is particularly recommended if one or both potential parents have a history of childhood-onset hearing loss in their immediate families.
If an infant or child is displaying signs of sudden or increasing hearing loss, a doctor may perform tests for a variety of possible conditions, including Pendred syndrome. Tests often involve brain and body scans, such as magnetic resonance imaging (MRI) or computed tomography (CAT) scans. Genetic testing on both parents may also be conducted at this time, in order to determine if either parent is a carrier of the recessive gene.
Once a diagnosis is made, children will likely need to see several specialists to deal with hearing loss or symptoms of the condition. While it is likely that children will lose some degree of hearing in both ears, they may retain enough to be able to speak and hear relatively well with hearing aids. For cases where hearing loss is greater, speech pathology or implants may be recommended.
Loss of balance is another common problem associated with Pendred syndrome. If it occurs, physical therapy treatment may be recommended to improve balance and help patients cope with the condition. In order to avoid balance issues, people with the condition are told to avoid pressure-changing activities such as scuba diving or mountain climbing.
Although Pendred syndrome can affect the thyroid gland, it is typically not associated with hypo or hyperthyroid disorders. More commonly, people with the condition will develop an enlarged thyroid gland, called a goiter. Goiters can cause difficulty breathing and swallowing and may require surgical correction or even removal. At the very least, goiters are closely monitored by medical professionals to determine if any associated conditions are developing.