Pendred Syndrome is a disease that is present from birth. The disease is characterized in that the affected patients suffer from a hearing impairment. In addition, goiter can be seen in the context of Pendred’s syndrome.
What is Pendred Syndrome?
Pendred syndrome is usually inherited, so people have the disease from birth. It is primarily a hearing impairment. Pendred syndrome is the most common syndromic disease associated with hearing impairments. Pendred syndrome also accounts for around five percent of all hearing impairments that are inherited. See foodanddrinkjournal for Migraine Dictionary Definitions.
Pendred syndrome occurs with a regionally varying frequency. For example, the disease is much more common in Great Britain than in the Scandinavian countries. In Germany, the frequency is also relatively low. Between four and ten percent of children who are deaf from birth have Pendred’s syndrome. The disease was first described by Pendred and was named after him.
Basically, the Pendred syndrome is characterized by a lack of the so-called thyroid peroxidase. This is a specific enzyme that plays an important role in the metabolism of iodine in the thyroid gland. There is also a genetic connection between the disease and the so-called pendrin gene. This is on the seventh chromosome and represents a protein that is responsible for the transport of iodine.
Pendred syndrome is caused by a genetic disorder. In this specific case, it is a mutation on a gene. The corresponding gene encodes a transport protein called pendrin. The protein acts as a mediator between special anionic substances in the inner ear, the thyroid gland and the kidneys.
Due to the genetic disorder, the transport of iodine into the follicles of the thyroid gland is impaired. As a result, the formation of hormones in the thyroid gland is disrupted. In principle, Pendred syndrome is inherited by potential offspring in an autosomal recessive manner.
Symptoms, Ailments & Signs
Pendred’s syndrome manifests itself in various symptoms in the affected patients. The main symptom is hearing loss, which is usually present in both ears. In the majority of cases, the hearing impairment is already apparent in newborn infants. Some of those affected also experience thyroid dysfunction.
Under certain circumstances, goiter develops, with hypothyroidism being detectable in the patients. Inner ear malformations are associated with the symptoms of Pendred syndrome with far less frequency. This shows, for example, an extension of a special aqueduct.
In most cases, the hearing loss manifests itself in the form of sensorineural hearing loss, which is usually severe. In addition, the disease is accompanied by a reduced cochlea. Since iodine is not processed properly in the thyroid gland, hypothyroidism (medical term hypothyroidism) develops in many cases. In young patients, the thyroid usually works normally.
Diagnosis & course of disease
If you have symptoms or signs of illness that are similar to those of Pendred syndrome, you should see an appropriate doctor as soon as possible. The first signs often appear in young children, so that the pediatrician is usually consulted. If necessary, he will refer the affected patient to other specialists, for example an ear, nose and throat specialist or an endocrinologist.
At the beginning of the diagnosis, an anamnesis takes place, which the treating doctor carries out with the sick person and possibly the persons having custody. The respective complaints are in the foreground. The family history also receives special attention, since Pendred syndrome is inherited and therefore tends to run in families.
In addition, the patient is clinically examined to obtain clues related to the existing disease. Pendred syndrome, for example, can be diagnosed with relative certainty using the so-called perchlorate depletion test. As part of this test, radioactive iodine is used to check the processing of Job in the thyroid gland.
With regard to the differential diagnosis, hypothyroidism that is not congenital plays a decisive role. The doctor also checks whether Newell-Diddle syndrome or Refetoff-de-Wind-de-Groot syndrome is present. In addition, a CT or MRI examination of the ear canal is usually carried out. In this way, potential malformations of the inner ear can be identified.
Within the framework of blood analyzes the thyroid hormones are determined and their concentrations interpreted. An elevated TSH value indicates the presence of hypothyroidism. Nowadays, genetic analyzes are increasingly being used, which usually secure the diagnosis of Pendred syndrome.
Due to Pendred syndrome, patients primarily suffer from hearing impairment. There are usually no other dangerous symptoms or complications, so that the life expectancy of the patient is usually not affected or limited by Pendred syndrome. Furthermore, in some cases there are also complaints about the thyroid gland, so that it can show an underfunction or an overfunction.
This can lead to various other complaints, so that the thyroid gland must be treated in any case. In some cases, the ears can also be deformed, so that the aesthetics of the patients can also be limited by this disease. The mental development of the child is usually not affected by the syndrome, so that there are usually no particular symptoms even in adulthood.
A causal treatment of Pendred’s syndrome is not possible, so that the hearing loss persists throughout life. Furthermore, the malfunctioning of the thyroid must be treated. However, there are no particular complications here either. The life expectancy of those affected is not negatively affected by Pendred syndrome.
When should you go to the doctor?
In the case of Pendred’s syndrome, a visit to a doctor is necessary in any case, otherwise there is no improvement in this disease. Since the disease usually occurs from birth, it is diagnosed directly after birth.
A doctor should be consulted for Pendred syndrome if the person affected suffers from hearing problems. These can vary in severity and have a strong negative effect on the patient’s everyday life and restrict it. Various malformations in the inner ear can also lead to earache. If these symptoms occur, the Pendred syndrome must be examined by a doctor in any case. Thyroid problems can also indicate Pendred’s syndrome, so that the thyroid should also be examined regularly when this syndrome occurs.
Pendred syndrome is evaluated and treated by an otolaryngologist . When examining the thyroid gland, a blood count is usually necessary, which can be examined by the family doctor.
Treatment & Therapy
Pendred syndrome is a congenital disease, so the disease is only treated symptomatically. Because a complete elimination of the genetic causes is not possible. The sick patients usually receive extensive support with regard to the development of their language skills. The ear is also specially trained. For example, numerous patients are prescribed logotherapy.
Outlook & Forecast
The prognosis in the presence of Pendred syndrome is not uniform. The effects of autosomal hereditary goitre hearing loss can vary in severity. In some cases standard hearing aids are sufficient, in others a cochlear implant is required to improve hearing.
There is a risk of progressive hearing loss in those affected if there are severe anomalies in the inner ear. As the hearing loss progresses, nothing can be done other than a cochlear implant. Measures that help the hearing impaired to cope better with life are helpful. The thyroid disorders associated with Pendred syndrome and the hypothyroidism that often develops from them can be treated with medication.
The prognosis is better if people affected by Pendred syndrome only have mild to moderate hearing loss. Even the development of a goiter does not always have serious consequences. In many cases, goiter formation does not occur until adolescence or later. Hypothyroidism only develops when the diet contains too little iodine.
So something can be done early on to counteract some of the possible sequelae of Pendred syndrome. This improves the prognosis, so that in most cases a normal age can be reached despite all disabilities. The earlier those affected are introduced to hearing aids or sign language, the better prepared they are for the deafness that may occur.
Pendred’s syndrome is hereditary, so according to the current state of knowledge, no options for preventing the disorder have been tested.
Those affected with Pendred syndrome usually have no special or direct measures and options for aftercare. Ideally, a doctor should be consulted very early on with this disease, so that further complications or a further deterioration of the symptoms cannot occur. Self-healing cannot occur because it is a genetic disease.
The person concerned should therefore also contact a doctor if they wish to have children, so that the syndrome is not passed on to the children. A doctor should be consulted as soon as the first symptoms and signs of the disease appear. The affected children need the intensive support and care of their own families in their everyday lives.
Loving conversations with one’s own family and with relatives or friends are also very important in order to prevent depression and other mental upsets. The child should be familiar with a hearing aid at an early stage and learn sign language so that there are no particular complications in everyday life. Regular check-ups and examinations by a doctor are also very important for Pendred syndrome, although the syndrome does not usually reduce the life expectancy of the person affected.
You can do that yourself
People with Pendred syndrome should see an audiologist or audiologist regularly. An otolaryngologist must monitor the course and check for changes in hearing ability. Those affected with mild symptoms can compensate for the hearing loss with a hearing aid.
A severe hearing loss must be treated surgically by placing an implant. Patients should ask their doctor about the various treatment options and take the necessary precautions.
After an operation on the ear, the ear must be protected from drafts and moisture. It is advisable to wear a bathing cap for the first few days. In the event of unusual symptoms, the doctor must be consulted. Accompanying thyroid problems must be treated medically. Patients can support the therapy with an adapted diet and physical activity. In addition, it must be clarified whether certain medications such as cortisone or beta blockers aggravate the symptoms. These drugs must be discontinued.
If these measures are taken, Pendred syndrome can be treated effectively. Nevertheless, in the course of the disease, symptoms can arise again and again, which must be clarified by a doctor. It is best for patients to consult their family doctor closely.