1970 Volume 17 Issue 1 Pages 57-63
A case of 18-year-old underdeveloped boy with familial cystathioninuria, goiter, poor hearing and some other physical malformations, i. e. hard palate of a high arch, cubitus valgus, spina bifida occulta and megacolon congenita, is reported. His parents are consanguineous, his maternal grandfather, grandmother and his father are mutually cousins. On a chromosome analysis, No.18 chromosome had a short arm deletion. Cystathioninuria, goiter, poor hearing and retarded growth were favorably treated with administration of desiccated thyroid. A defect of thyroxine formation from iodotyrosine was detected in this case. Therefore, it is suggested that goiter and retarded growth were caused by a relative lack of thyroid hormone in his growth process. Congenital cystathioninuria is a rare disease. Among these cases reported hitherto, the investigations into the relationship between goiter and cystathioninuria have not been made in detail.Experimental results are as follows. L-cystathionine inhibited thyroxine formation from diiodotyrosine, the concentration of 10-2 M of 1-cystathionine showed an inhibition by about 20% in thyroxine synthesis. Serine dehydrase activity in rat liver was elevated to a strikingly high level following the treatment with triiodothyronine, and decreased markedly following thyroidectomy. Activities of cystathionine synthetase and cystathionases remained unchanged. From the above results, discussion was made on the vicious cycle between the accumulation of cystathionine and the inhibition of thyroxine formation.
