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May 1957

Sporadic Familial Goitrous Hypothyroidism

AMA Am J Dis Child. 1957;93(5):510-518. doi:10.1001/archpedi.1957.02060040512003

Introduction  A survey of sporadic cretinism in the United States conducted by Sir William Osler in 1897 revealed that 7 among 60 cases studied were goitrous; moreover, 3 of those 7 cases were from one family of five children.1 Observations with respect to sporadic goitrous hypothyroidism were not significantly enlarged upon until the introduction of I131 to clinical studies of human thyroid metabolism by Hamilton and Soley in 1939.2 While sporadic goitrous hypothyroidism has subsequently undergone rather extensive investigation, attempts to clarify its pathophysiology are of recent origin.3-16Eight children with this disorder are presented in this report in conjunction with data from laboratory investigations of their altered iodine metabolism. Pathologic data from these and other cases are described in a subsequent publication.17

Report of Cases  Case 1.–A boy was born uneventfully on March 27, 1948, after a normal full-term pregnancy. The family had never