What does Pendred syndrome affect?
What does Pendred syndrome affect?
Pendred syndrome is a genetic disorder that causes early hearing loss in children. It also can affect the thyroid gland and sometimes creates problems with balance. The syndrome is named after Vaughan Pendred, the physician who first described people with the disorder.
What are the symptoms of Pendred syndrome?
The symptoms of Pendred syndrome are:
- Sensorineural hearing loss present at birth.
- Inner ear changes and enlargement of the thyroid gland.
- An enlarged vestibular aqueduct – an inner ear abnormality.
- Balance problems caused by altered vestibular function.
What is Pendred syndrome?
Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland , which is a butterfly-shaped organ at the base of the neck that produces hormones.
What is cretinism caused by?
Cretinism refers to severe hypothyroidism in an infant or child. This is classically the result of maternal iodine deficiency, and thankfully is increasingly rare.
What is treatment of Pendred syndrome?
Treatment. No specific treatment exists for Pendred syndrome. If thyroid hormone levels are decreased, thyroid hormone supplements may be required. Patients are advised to take precautions against head injury.
What are the two main effects of cretinism?
Congenital hypothyroidism, previously known as cretinism, is a severe deficiency of thyroid hormone in newborns. It causes impaired neurological function, stunted growth, and physical deformities.
What gland is affected by cretinism?
A congenital condition caused by a deficiency of thyroid hormone during prenatal development and characterized in childhood by dwarfed stature and mental retardation. A noncancerous enlargement of the thyroid gland, visible as a swelling at the front of the neck, that is often associated with iodine deficiency.
What is Dyshormonogenesis?
A defect in the synthesis of the thyroid hormone thyroxine due to an enzyme failure. The low levels of thyroxine in the blood cause a large output of thyroid stimulating hormone (TSH) from the PITUITARY gland and the result is an enlargement of the thyroid gland (goitre).
How is Pendred syndrome related to thyroid problems?
Pendred syndrome is a genetic disorder that causes early hearing loss in children. It also can affect the thyroid gland and sometimes creates problems with balance. The syndrome is named after Vaughan Pendred, the physician who first described people with the disorder.
What kind of hearing loss does Pendred syndrome cause?
Pendred syndrome is caused by a mutation in the SLC26A4 gene, which causes a defect in the organification of iodine (ie, incorporation into thyroid hormone), congenital sensorineural hearing loss, and, usually, an enlarged thyroid gland. It is inherited in an autosomal recessive manner.
Who is involved in the treatment of Pendred syndrome?
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.
How can you tell if your child has Pendred syndrome?
Another sign is a family member who has both a goiter and hearing loss. However, often there is no family history of Pendred syndrome in the families of children who have the disorder. A mutation in the SLC26A4 gene can be determined by genetic testing of a blood sample.
