FAMILIAL ATHYREOTIC CRETINISM: REPORT OF 3 CASES

Abstract

THREE types of sporadic cretinism have been described in the literature—non-endemic goitrous, secondary (pituitary), and athyreotic. I. Non-endemic goitrous hypothyroidism. Occasionally enlarged thyroid glands have been noted in cretins living in regions where goiter is not endemic. Hypothyroidism in these patients is due to an inability of the gland to produce thyroid hormone, even though it can accumulate iodine readily as shown by studies with I¹³¹ (1–6). The enlargement of the thyroid is presumed to be due to an increased secretion of thyrotropic hormone secondary to deficiency of circulating thyroid hormone. It is relatively common for this form of cretinism to be familial (1, 7). II. Secondary (pituitary) hypothyroidism. Cretinism of the sporadic type also may be secondary to a deficiency of anterior pituitary thyrotropic hormone production. This type is usually, but not necesarily, associated with signs of a generalized pituitary insufficiency. III. Athyreotic cretinism (athyreosis).