|
|
|
|
|
|
Pendred syndrome is an inherited disorder for deafness. The syndrome is named after the person who found it, Vaughan Pendred in 1896.
Inheritance:
Pendred syndrome is an autosomal recessive disorder. This means that both normal parents (carriers) contributed one recessive gene to their offspring. There is a one in four chance to get this disorder. It is associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and thyroid enlargement (goiter).The normal PDS gene makes a protein, called pendrin, which is found at significant levels in the thyroid gland only.
|
|
Symptoms:
1) enlargement of the thyroid gland (goiter) may vary for individuals
2) and deafness Diagnosis:
1)confirmed by a positive perchlorate discharge test.
2)or, molecular genetic testing Treatment:
1) Hearing habilitation (hearing aids - as soon as possible)
2) Educational programs designed for individuals with hearing impairment
3) levothyroxine sodium for abnormal thyroid condition
|
|
|
