PEDIATRICS Vol. 41 No. 2 February 1968, pp. 413-420
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FAMILIAL AGOITROUS CRETINISM ACCOMPANIED BY MUSCULAR HYPERTROPHY

Harold E. Cross M.D., Ph.D.1, Charles S. Hollander M.D.1, David L. Rimoin M.Sc., M.D., C.M., Ph.D.1, and Victor A. McKusick M.D.1

1 Divisions of Medical Genetics and Endocrinology, Department of Medicine, Johns Hopkins University School of Medicine and Johns Hopkins Hospital, Baltimore

Radioiodine (I131) studies failed to detect functioning thyroid tissue in two sibs with cretinism. These patients would have been considered athyreotic by the usual criteria but technetium-99M scanning revealed thyroid tissue in one patient. Because the safe dose of technetium is nearly 40 times that of I131, this isotope is more likely to detect a small or hypoactive thyroid gland. The studies reported here suggest that the diagnosis of athyreotic cretinism should not be based on I131 studies alone.

The defect in thyroid metabolism is unknown. On the basis of a normal salivary to plasma I131 ratio and the lack of significant thyroidal uptake, it is unlikely that these patients had one of the previously described thyroid metabolic defects. Evidence suggests autosomal recessive inheritance in this family. The clinical signs of cretinism included muscular hypertrophy, a complex known as the Debré-Sémélaigne syndrome. Marked clinical improvement followed institution of levothyroxine therapy.

This syndrome has not been reported previously in sibs.

Submitted on May 16, 1967
Accepted on August 19, 1967


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