家族性甲状腺腫性クレチン症の内分泌および遺伝的研究

概要

論文の詳細を見る
Familial sporadic cretinism is an uncommon type of sporadic cretinism. Our clinic have had 11 cases since 1953. To elucidate the pathogenesis of these cases, following studies were performed, (1) KSCN test, (2) dehalogenation of ^<131>I-labeled DIT and MIT, (3) distribution of labeled iodine in thyroid gland, (4) others. The results were as follows : 1) Four families, where siblings were affected, were responsible for 8 of 11 cases. Six occurred in 4 families, in which the parents were consanquineous. These data suggested that the pattern of inheritance was compatible with an autosomal recessive mode of transmission. The gene frequency by means of the Dahlberg's formula was estimated and obtained a value of 0.000534. 2) Iodide organification defects, iodotyrosine deiodinase defects and coupling defects were found in 3.1 and 3 families, respectively. 3) The studies of the parents and the relatives of patients were also performed using the above mentioned methods. But these subjects were all normal. 4) From the results, the normal range of KSCN test and DIT dehalogenation activity were discussed.
千葉大学の論文
1967-03-28