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.
Is Pendred syndrome a disability?
It is named after Dr Vaughan Pendred (1869–1946), the British doctor who first described the condition in an Irish family living in Durham in 1896. It accounts for 7.5% to 15% of all cases of congenital deafness….
| Pendred syndrome | |
|---|---|
| Other names | Goiter-deafness syndrome |
Is Pendred syndrome progressive?
Children who are born with Pendred syndrome may begin to lose their hearing at birth or by the time they are three years old. The hearing loss is progressive, which means that a child will have less hearing over time.
Can Pendred syndrome be treated?
There is no specific treatment for Pendred syndrome and supportive therapies are typically aimed at correcting hearing loss and thyroid dysfunction. Depending on the extent of hearing loss and thyroid dysfunction, patients with Pendred syndrome may need hearing aids, therapy or thyroid supplements.
How common is it to be a carrier of Pendred syndrome?
Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to not be a carrier and not have the condition.
What mutation causes Pendred?
Mutations in the SLC26A4 gene cause about half of all cases of Pendred syndrome. The SLC26A4 gene provides instructions for making a protein called pendrin.
When was Pendred discovered?
The most common syndromic form of hereditary SNHL, Pendred syndrome (PS), was described by Pendred in 1896. The condition is autosomal recessive, and affected individuals also have goiter.
Can a goiter cause hearing loss?
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 Pendred syndrome SLC26A4?
Mutations in the SLC26A4 gene alter the structure or function of pendrin, which disrupts ion transport. An imbalance of particular ions disrupts the development and function of the thyroid gland and structures in the inner ear, which leads to the characteristic features of Pendred syndrome.
What is Dyshormonogenesis?
Dyshormonogenesis is caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance.
What is Pendred syndrome?
What is Riedel thyroiditis?
Riedel thyroiditis, or Riedel’s thyroiditis (RT), is a rare, chronic inflammatory disease of the thyroid gland characterized by a dense fibrosis that replaces normal thyroid parenchyma. The fibrotic process invades adjacent structures of the neck and extends beyond the thyroid capsule.
What is Pendred syndrome in adults?
Summary Summary. Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears (bilateral) and euthyroid goiter (enlargement of the thyroid gland with normal thyroid gland function). The amount of hearing loss varies among affected people. In many cases, significant hearing loss is present at birth.
Does Pendred syndrome cause follicular thyroid cancer?
Histopathology showed a follicular thyroid … We present the clinical and molecular studies of a family with Pendred syndrome, in which one affected individual developed follicular thyroid cancer. Two siblings with classic Pendred syndrome triad were operated on because of enormous multinodular goiter. Histopathology showed a follicular thyroid …
Does Pendred syndrome cause hearing loss?
Almost all children with Pendred syndrome have bilateral hearing loss, which means hearing loss in both ears, although one ear may have more hearing loss than the other. Childhood hearing loss has many causes.
What is the pathophysiology of pendrin syndrome?
Pendred syndrome characteristically presents with a combination of sensorineural hearing loss and thyroid goiter with or without hypothyroidism. It is an autosomal recessive disorder, which is caused by a biallelic mutation in the PDS gene leading to a defect in pendrin protein. [1] Go to: Etiology