GENETIC ASPECTS OF PEDIATRIC ENDOCRINOLOGY

Dr. Gardner: Historically pediatricians have been in the vanguard of the social and scientific forces improving the health and well-being of their patients—the children of this country. Indeed, we have the heavy responsibility of carrying on the proud tradition of our professional great-grandfather, Dr. Abraham Jacobi, who came to these shores in the aftermath of the German Revolution of 1848, and who eventually rose to the presidency of the American Medical Association. As the pioneer in American pediatrics, Jacobi never failed to let his position be known on controversial issues. His intuitive Jeffersonian grasp of the democratic process facilitated his rôle in the early development of pediatrics here. Jacobi's coat has, in a sense, fallen upon our shoulders, and American pediatrics must continually be on the alert to live up to what he would have expected of us. Therefore let me come directly to the problem at hand. As we know, the relative number of children with congenital defects in our hospitals is very much greater than 25 years ago. Recently in our hospital we tabulated the cases over a 5-month period, and found that 30% of the pediatric inpatients were there because of congenital defects. This apparent increase is almost certainly due in large part to the reduction in patients with infectious disease, but the figure of 30% still must remind us that the care of children with congenital defects is a field of major importance in modern pediatrics. How many of these defects are genetically determined is not known for sure, but certainly a considerable part of this group of patients represents inherited disease. As is obvious from the syndromes we will take up in this endocrine round table, nearly every one of these conditions is genetically determined, that is to say, the result of a mutation which has taken place in the human hereditary material.