PEDIATRICS Vol. 27 No. 2 February 1961, pp. 269-285
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GENETIC STUDIES ON THE CONGENITALLY HYPOTHYROID

James V. Neel M.D., Ph.D.1, Edward A. Carr M.D.1, William H. Beierwaltes M.D.1, and Ruth T. Davidson B.S.1

1 Departments of Human Genetics and Internal Medicine, University of Michigan Medical School

THE IMPORTANCE of congenital hypothyroidism as a cause of human disability varies greatly from one part of the world to another, bearing a well-known relationship to the availability of dietary iodine. However, even in areas where the iodine supply is adequate, or in areas of endemic cretinism where iodized salt has been introduced, severe hypothyroidism remains one of the important endocrine disorders of childhood. The present report is concerned with the genetic aspects of an attempt to obtain a comprehensive picture of congenital hypothyroidism in the state of Michigan at the present time.

Recent advances in techniques for the study of thyroid disease, as well as the even earlier recognition and treatment of congenital hypothyroidism, have rendered obsolescent, in nonendemic areas, the traditional division of cretins into goitrous and nongoitrous or athyrotic. Thus, current techniques permit the recognition of minute or ectopic thyroid glands in the former "athyrotic" group while prompt recognition and treatment of congenital hypothyroidism may forestall, at least temporarily, the development of a goiter in a potentially "goitrous cretin," and even conceivably, in the face of long continued therapy, lead to the degeneration to a small remnant of a thyroid which in the absence of treatment would have assumed immense proportions. Further, as brought out in the summary of Wilkins et al. the goiter of a "goitrous cretin" not infrequently fails to appear before the second decade; a study at the age level of the present one accordingly cannot rely on physical examination alone for a classification. There is thus the need for an extremely careful use of both terms and techniques in any over-all approach to congenital hypothyroidism such as this purports to be.

SUBJECTS

The present report stems from genetic studies on 54 index cases (propositi) with severe hypothyroidism, representing 50 sibships. These persons were located in the following manner:

1) Through a review of the charts of all patients on whom the diagnosis of congenital hypothyroidism was made at the University Hospital between 1930 and 1959. This review yielded a total of 54 diagnosed cases, of whom 28 in 26 sibships are included in the present series. The remaining 26 cases are not included in the study for the following reasons: a) laboratory and other studies not yet complete on 14 patients, b) 5 patients either live out of state or cannot be located, c) diagnosis not confirmed in 2 cases, d) 2 patients deceased, and e) family unable to cooperate in 3 cases.