Answer:
- Pendred syndrome is an uncommon genetic disease in children. Patients usually have hearing loss in both ears (often at birth) and a goiter, which is an enlarged thyroid gland in the neck.
- The goiter typically grows in the teenage years but may present earlier or later.
Step-by-step explanation:
Pendred syndrome, also known as Pendred syndrome, is a genetic disorder that primarily affects the thyroid gland and the inner ear. It is named after Dr. Vaughan Pendred, who first described the syndrome in the 19th century. Pendred syndrome is characterized by two main features:
1. Thyroid Abnormalities:
- People with Pendred syndrome often have an enlarged thyroid gland, a condition known as a goiter.
- This goiter can lead to thyroid dysfunction, which may result in symptoms such as hypothyroidism (underactive thyroid) or hyperthyroidism (overactive thyroid).
- The severity of thyroid dysfunction can vary among individuals.
2. Hearing Loss:
- Another hallmark of Pendred syndrome is sensorineural hearing loss, which is typically congenital (present at birth) or becomes apparent during early childhood.
- This hearing loss can range from mild to profound and may affect one or both ears. It is usually progressive, meaning it tends to worsen over time.
- Pendred syndrome is caused by mutations in the SLC26A4 gene, which encodes a protein called pendrin. Pendrin plays a crucial role in the transport of ions (particularly chloride and iodide) in the thyroid and inner ear. Mutations in this gene disrupt the normal function of pendrin, leading to the accumulation of iodide in the thyroid gland and the improper development of the inner ear's structures.
- Diagnosis of Pendred syndrome typically involves clinical evaluation, hearing tests, and genetic testing to identify mutations in the SLC26A4 gene. Management of Pendred syndrome may include hearing aids or cochlear implants to address hearing loss and thyroid hormone replacement therapy to manage thyroid dysfunction.
It's important for individuals with Pendred syndrome to work closely with healthcare professionals, including endocrinologists and audiologists, to monitor and manage their condition effectively. Early intervention for hearing loss can significantly improve an individual's quality of life, and thyroid dysfunction can be managed with appropriate medical treatment.