Endemic Cretinism in the Andean Region of Ecuador

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Abstract
Ten patients conforming to a diagnosis of cretinism have been studied. These patients live in an area of rural Ecuador where endemic goiter is severe. Diagnosis was based on severe mental retardation, shortness of stature and a constellation of findings considered characteristics of this disorder. The patients were not clinically hypothyroid. Serum hormone measurements were low normal; radioiodine uptake values were high. Major abnormalities were encountered in osseous development, hearing and electroencephalographic activity. Most had developed normally sexually. Eight out of 10 had severe motor abnormalities. None improved significantly on thyroid replacement medication.

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