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Pediatrics Genetics And Genetic Disorders 1c0c9192

True about Pendred syndrome is:

A
Diffuse colloid goitre
B
Mental retardation
C
Bilateral sensory neural deafness
D
All of the above
High-Yield Explanation
Ans. D. All of the abovePendred syndrome, a disorder of the pendrin gene, is associated with decreased intracellular transport of iodine and deafness. Transient congenital hypothyroidism may occur following transplacental passage of TSH receptor blocking anti bodies iodine exposure and treatment with drugs like amiodarone.

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