Iodide-trapping defect of the thyroid. A case report.
We describe a grossly hypothyroid 50-year-old woman, mentally retarded since birth. On the basis of her history of recurrent goitre, absence of 131I neck uptake and a low saliva/plasma 131I ratio, congenital hypothyroidism due to a defect of the iodide-trapping mechanism was diagnosed. Other family members studied did not have the defect.
D003409:Congenital Hypothyroidism; D005260:Female; D006801:Humans; D007454:Iodides; D008875:Middle Aged; D011863:Radioimmunoassay; D011868:Radioisotopes; D013960:Thyroid Function Tests; D013961:Thyroid Gland / Q000378:metabolism*
D007454:Iodides; D011868:Radioisotopes