A genetical study of goitre.

Abstract

SummaryA family study was performed of fifty­seven male patients who had undergone thyroidectomy for toxic or non­toxic goitre. In six or more of the thirty­one patients with non­toxic goitre there were suggestions that recessive or dominant inborn errors in iodine metabolism were present as the cause of the disease. Genetical determinants of a more complex nature undoubtedly contribute towards the pathogenesis of other cases of non­toxic goitre and of cases of primary thyrotoxicosis. It is suggested that secondary thyrotoxicosis may represent a mixture of cases in some of whom hyperactivity supervenes in a pre­existing goitre, while in others the aetiology is similar to that of primary thyrotoxicosis.A further small series of nine patients was studied where the diagnosis of carcinoma of the thyro'd was followed by survival of 3 years or more. A proportion of such cases probably represents the results of recessive or dominant inborn errors of iodine metabolism in whom lifelong thyrotrophic stimulation produces a histological picture suggestive of malignant change.This small series does not confirm the suggestion of earlier investigations that tasting status to phenylthiocarbamide is of importance in the pathogenesis of thyroid disease. The sex chromatin pattern was studied in nineteen infertile members of the male thyroidectomy series. This resulted in the discovery of one individual with non­toxic goitre who had forty­seven chromosomes and an XX Y sex chromosome complement.It would seem indispensable that further family studies should be supplemented by full laboratory investigations of propositi and their relatives, including routine thyroid function tests, auto­antibody estimations and in appropriate cases biochemical studies of thyroxine synthesis, liberation, and transport.In an Appendix family studies in areas of endemic goitre in Yugoslavia are discussed in relation to the aetiology of this condition.I should like to thank the following persons who made this study possible. Mr A. S. Till kindly allowed me access to the patients who had had thyroidectomies under his care at the United Oxford Hospitals. Dr F. Ellis helped me to trace the cases of carcinoma of the thyroid with long survival who had attended the Radiotherapy Department of the United Oxford Hospitals. Dr W. R. Trotter permitted a series of male thyrotoxic patients attending his clinic at University College Hospital to be seen. Dr O. J. Miller, Dr M. Fraccaro, Dr M. Glen­Bott and Mrs A. Webster helped in the sex chromatin and chromosome studies. Miss S. Barnett, Miss K. Major and Miss R. Mason made many of the family visits.Finally, I should like to thank Professor Gusic, Professor Kesic, Dr Ferber, Dr Grunwald, Dr Maver and Dr Sestak of the Faculty of Medicine in the University of Zagreb who arranged for the family visits in Yugoslavia.