What is Pendred syndrome?
pendred syndrome is AR disorder that causes early hearing loss in children. it can also affect thyroid gland and sometimes create problems with balance
Hearing loss(sensorineural): children may lose hearing at birth or by they are 03 years of age . hearing loss often occur suddenly some children may become totally deaf . almost all children have bilateral hearing loss although hearing loss may be more in one ear then the other
diagnosis done on MRI OR CT scan to look for 2 things ; cochlea has very few turns (one and half)
enlarged vestibar aqueduct
endocrine symptoms: abnormal organification of iodide with or without hypothyroidism
thyroid gland is enlarged ( goitre)
there levels of thyroid hormones are usually normal and they rarely have problems with growth and development even if there thyroid is affected
typical age for goitre to develop is adolescence or early adulthood
balance: there may be vestibular weakness when balance is tested however brain is good at making up weak vestibular system most children and adults with penderd syndrome don't have problem with balance or having difficulty during routine task