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Congenital hypothyroidism due to a variety of defects in the biosynthesis of thyroid hormone is
detected in 1/30,000-50,000 live births.
In the iodide organification defect which is one of defect in the biosynthesis of thyroid hormone,
iodide is not organified and may be rapidly discharged from the thyroid by administration of
perchlorate.
We experienced two siblings who had short stature, goiter, mental retardation, constipation and
other... |