The hereditary and familial aspects of exophthalmic goitre and nodular goitre.

Introduction THE hereditary and familial aspects of exophthalmic goitre, although not entirely disregarded, have not apparently been closely studied in the past. They have most often received attention in connexion with the occurrence of exophthalmic goitre among children (Cockayne, 1928; Atkinson, 1938; Moolten and Bruger, 1942) while isolated families notably affected by the disease are also on record. (Wild, 1886 ; Pern, 1911 ; Souques and Lermoyez, 1919; Climenko, 1920; Morrison, 1928.) Such restricted studies have in general contributed little to our knowledge, for some have consisted at the most of a few spectacular family trees from which general genetical conclusions could scarcely be drawn, while others have been encyclopaedic reviews of the literature without providing any decisive information. Joll (1932) stated that there was no real evidence that exophthalmic goitre was usually hereditary and Means (1937) could allow only that hereditary factors might be important in production of the disease. No detailed study of the families of a large series of adult exophthalmic goitre patients appears to exist, although Mackenzie (1916) noted affected relatives in 44 of 438 cases and Gardiner-Hill (1934) recorded six per cent. of 100 cases with a history of the disease in ascendants and nine per cent. with affected siblings. In the case of nodular goitre, whether non-toxic or associated with secondary thyrotoxicosis, any hereditary or familial factors are bound up with those of simple colloid goitre which is a prerequisite antecedent of a nodular goitre. As will be discussed later the factor of environment is so entangled with any possible hereditary trait that a clear separation of the two would be extremely difficult. The object of the present paper is to set out the results of a study of the familial and hereditary factors in an adult series of 90 cases of exophthalmic goitre (primary thyrotoxicosis) and 111 cases of nodular goitre, both toxic (secondary thyrotoxicosis) and non-toxic, and to examine the information obtained from both types of the disease.