Pendred syndrome is an inherited genetic disease that is transmitted through autosomal recessive inheritance. This syndrome is a disorder that affects the structures related to hearing and balance in the thyroid gland and inner ear. Pendred syndrome is typically characterized by hearing loss, but it can also include abnormalities in the thyroid gland and sometimes balance problems in the inner ear. Pendred syndrome occurs due to mutations in a gene called SLC26A4. These mutations disrupt the production of a protein that affects the normal development of the thyroid and the function of the hearing organs.
The treatment for Pendred syndrome may include hearing aids or hearing implants as assistive devices for hearing loss. Thyroid hormone replacement therapy may also be necessary for thyroid problems. Patients with balance problems can benefit from rehabilitation programs such as physiotherapy and balance training. Due to being a genetic disease, a family history and genetic counseling are important for Pendred syndrome.
Causes of Pendred Syndrome
Pendred syndrome is caused by a genetic mutation. In particular, mutations in a gene called SLC26A4 are one of the causes of Pendred syndrome. These mutations affect the normal function of the SLC26A4 gene and disrupt the normal functioning of a carrier protein that is the product of this gene. Pendred syndrome is inherited through an autosomal recessive inheritance pattern, along with mutations in the SLC26A4 gene. Even if parents are carriers, they usually do not show symptoms because they have one normal copy of the SLC26A4 gene. Due to being a genetic disease, a family history is important for Pendred syndrome. If there is a family history of Pendred syndrome or similar genetic diseases, it is important to seek genetic counseling and assess the risk.
Symptoms of Pendred Syndrome
The main symptoms of Pendred syndrome may include:
- hearing loss
- abnormalities in the thyroid gland
- abnormalities in the inner ear and balance problems
- delay in speech and language development
- swallowing problems
Diagnosis of Pendred Syndrome
The following steps are followed when diagnosing Pendred syndrome:
Medical History and Physical Examination: The physician carefully evaluates the patient’s and family’s medical history and symptoms.
Genetic Counseling: Pendred syndrome is a genetic disease, and family history is important.
Genetic Tests: The diagnosis of Pendred syndrome includes genetic tests to determine mutations in the SLC26A4 gene.
Hearing Tests: Patients with hearing loss undergo hearing tests.
Thyroid Evaluation: The size and function of the patient’s thyroid gland are evaluated.
Treatment of Pendred Syndrome
The treatment of Pendred syndrome should be personalized according to the patient’s symptoms and needs:
Hearing Assistive Devices: Hearing aids or hearing implants can be used for patients with hearing loss due to Pendred syndrome.
Treatment of Thyroid Problems: If there are abnormalities in the thyroid gland due to Pendred syndrome, thyroid hormone replacement therapy may be applied.
Management of Balance Problems: Patients with Pendred syndrome may experience balance problems in the inner ear.
Speech Therapy and Language Education: Speech therapy and language education may be recommended for children experiencing delayed speech and language development due to hearing loss.
Avoidance of Triggering Factors: Patients with Pendred syndrome should try to avoid factors that may trigger hearing loss or other symptoms.
Regular Follow-up and Specialist Consultation: Regular doctor visits and consultation with specialists are important for managing Pendred syndrome.
Management of Pendred Syndrome
The management of Pendred syndrome includes a range of strategies aimed at alleviating symptoms, improving quality of life, and preventing complications:
Hearing Assistive Devices: Since most patients with Pendred syndrome have hearing loss, it is important to use hearing assistive devices such as hearing aids or hearing implants.
Regular Hearing Check-ups: Patients with hearing loss should be monitored by hearing specialists for the regular adjustment and maintenance of hearing aids.
Thyroid Monitoring: The size and function of the thyroid glands of patients with Pendred syndrome should be regularly monitored. The levels of thyroid hormones should be checked.
Management of Balance Problems: Patients with balance problems in the inner ear can benefit from rehabilitation programs such as physiotherapy and balance training.
Speech Therapy and Language Education: Speech therapy and language education may be recommended for children experiencing delayed speech and language development due to hearing loss.
Avoidance of Triggering Factors: Patients with Pendred syndrome should try to avoid factors that may trigger hearing loss or other symptoms.
Family History and Genetic Counseling: Pendred syndrome is a genetic disease, so family history is important.