1 The Departments of Pediatrics and Pathology, Johns Hopkins University School of Medicine and the Harriet Lane Home of the Johns Hopkins Hospital, Baltimore.
The authors have reported a series of four cases of congenital cretinism in which the thyroid gland was present and capable of taking up iodine. The patients lived in regions where there is an abundance of iodine, and there is no history of the intake of excessive goitrogens. In the two younger patients, the thyroid gland was not enlarged. The two older children developed goiters at the ages of 6 years and 8
years. The goiter of the oldest child showed generalized hyperplasia of high degree and in addition contained encapsulated nodules resembling adenomas or carcinomas. The case was similar to those described by Stanbury and by others.
There is a strong tendency for this type of hypothyroidism to be familial. It is probably due to an inborn defect in the ability of the thyroid gland to convert inorganic iodine into thyroid hormone. The precise step at which the path of synthesis is defective is not known, and all cases may not be the same. In early life, the gland may not be enlarged. If the hypothyroidism is not adequately treated, a goiter with hyperplastic and neoplastic changes is prone to develop later probably due to the compensatory Secretion of large amounts of pituitary thyrotropin. In spite of the histologic appearance of carcinoma, malignant spread has not been reported. Exophthalmos has not been observed.
This type of hypothyroidism was described by Osler in 1897 and should be recognized as distinct from sporadic athyrotic cretinism or endemic (iodine-deficient) cretinism. Although comparatively uncommon, its incidence may be higher than suspected. In the absence of goiter, the diagnosis can be made only by the study of the uptake of J131. The importance of adequate and continuous treatment with thyroid substance in the prevention of goiter is obvious.