Tuesday, July 12, 2011

Pendred's syndrome

The amuse-bouche today was Pendred's syndrome. A link to a good article here.

Pendred's syndrome is an autosomal-recessive disorder of iodine organification caused by mutations in iodine transport protein pendrin.
It is characterized by the combination of congenital sensorineural hearing and goiter, and accounts for up to 10% of cases of hereditary deafness.
Patients have a positive perchlorate discharge test because they cannot provide substrate for the organification step in thyroid hormone synthesis.

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