Pendred syndrome (PDS) is inherited autosomal recessive genetic disorder that leads to congenital bilateral hearing loss in children. It also can affect the thyroid gland and sometimes creates problems with balance. Goiter is secondary to abnormal iodine transport across the thyrocyte and it develops most commonly during adolescence. Pendred syndrome is named after Dr. Vaughan Pendred, the English physician who first described this condition in 1896 (NIH Pub. 2002).
Pendred syndrome
Pendred syndrome (PDS) is the genetic disorder that causes congenital bilateral sensorineural hearing impairment in children. Besides hearing loss, it also can affect the thyroid gland and cause mild hypothyroidism or goiter in late childhood or early adulthood…show more content… However, according to one research study by Japanese scientist, Pendred syndrome mutation spectrum in Japanese is very different from the mutation found in Caucasians. The study also suggested that PDS gene mutation spectrum in Japanese may be representative of those in Eastern Asian populations. However, there are no other further research studies on this issue (Tsukamoto et al. 2003).
As of treatment today, Pendred syndrome is not curable, No specific treatment exists for Pendred syndrome. However, supportive measures are available for symptomatic treatment in hearing loss as well as thyroid hormone supplementation in case of hypothyroidism or goiters. To help hearing impairment, speech training and inner ear implants could promote patient daily function.
Because Pendred syndrome is congenital and involves hearing, balancing and thyroid defect, to help alleviate the symptoms, many specialists needs to be involved and referred. These specialist includes audiologist for hearing and balancing issue, endocrinologist for thyroid issue, speech-language pathologist to help design language training and clinical geneticist or genetic counselor who can help families understand the significance of genetic conditions, ordering the genetic test and reach
