Goitrous cretinism due to the inborn enzymatic defect

ABSTRACT

The five types of inborn defect in biosynthesis of thyroid hormones are described 1. defect in the trapping of iodide by the thyroid gland, 2. defect in incorporation of iodide into organic form, 3. defective coupling of iodotyrosines, 4. defect of deiodination of MIT and DIT , 5. abnormal serum iodoporteins. These metabolic defects are transmitted by recessive autosomal genes. A case of goitrous cretinism in an eleven year old Burmese girl whose parents are first cousins is described. The high uptake of radioiodine in the thyroid gland and the rapid discharge of radioiodine from the gland after potassium thiocyanate classify the child into the second group, i.e., defective incorporation of iodine by the thyroid due to the lack of enzyme peroxidase. Early diagnosis and immediate effective treatment of inborn hypothyroidism is very important.