True about pendred syndrome –

Correct Answer: All
Description: Ans. is 'a' i.e., Diffuse colloid goiter; 'b' i.e., Nodular goiter; 'c' i.e., Mental retardation Pendred syndrome o It is an autosomal recessive disorder o Goiter with sensory neural deafness is seen in pendred syndrome. o Goiter is due to several mutation in TPO gene which lead to defective organification and congenital hypothyroidism. o Hearing loss is usually present at bih but goiter appears after pubey. o Goitre is usually soft and diffuse and later life become nodular. o It is due to defect in a sulfate transpoer protein common to thyroid gland and cochlea.
Category: Pediatrics
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