The Metabolic Basis for Certain Disorders of the Thyroid Gland

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Abstract
At least five metabolically distinct disorders of the thyroid gland are now recognized which impair the function of the gland and lead to hypothyroidism and goiter. The patients which have been described in each group are probably homozygous for a recessive gene which controls the synthesis of an enzyme necessary for a specific step in thyroidal hormonogenesis. Relatives of these patients often have goiter but are otherwise normal. They are presumed to be heterozygous for the defect for which the probands are homozygous. The quantity of iodine in the diet in some cases determines the impact of the genetically determined defect on the patient.