Five cases of absence of iodide concentrating mechanism.
Five cases, 2 males and 3 females, with absence of iodide concentrating mechanism are reported. Three of the five subjects are siblings and the eldest sister has no symptom to account for the cretinism. All 5 cases have improved clinically following the administration of potassium iodide and 4 cases are still in a euthyroid state without any adverse effects during a half to more than 4 years. This study suggests that the absence of iodide concentrating mechanism might be erroneously diagnosed as athyroidal cretinism or adolescent non-toxic diffuse goitre, and may at times not show any clinical symptoms.
D000293:Adolescent; D000328:Adult; D002648:Child; D003409:Congenital Hypothyroidism / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D003937:Diagnosis, Differential; D004032:Diet; D005260:Female; D006042:Goiter / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007454:Iodides / Q000097:blood / Q000378:metabolism*; D008297:Male; D011193:Potassium Iodide / Q000627:therapeutic use; D012463:Saliva / Q000378:metabolism; D013962:Thyroid (USP) / Q000627:therapeutic use; D013960:Thyroid Function Tests; D013961:Thyroid Gland / Q000378:metabolism*
D007454:Iodides; D013962:Thyroid (USP); D011193:Potassium Iodide