Hostname: page-component-78c5997874-4rdpn Total loading time: 0 Render date: 2024-11-20T04:35:28.076Z Has data issue: false hasContentIssue false
  • English
  • Français

Gozzo con Ipotiroidismo dovuto a Difetto Familiare di Desiodazione delle Iodotirosine

Published online by Cambridge University Press:  01 August 2014

U. Bigozzi ,
M. Bigazzi ,
R. Guazzelli  and
F. Melani
U. Bigozzi
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica, Università degli Studi di Firenze
M. Bigazzi
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica, Università degli Studi di Firenze
R. Guazzelli
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica, Università degli Studi di Firenze
F. Melani
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica, Università degli Studi di Firenze

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

The Authors describe the case of juvenile hypothyroidism with goiter caused by a congenital defect in the synthesis of the thyroid hormones. The picture of thyroid uptake curve, cromatographic separation of thyroid hormones in serum and of thyroid gland tissue, and the PBI concentration, suggest to include the case among the iodothyrosine dehalogenase defects. Such a defect, though very attenuate, has been found in the patient's mother too. From a genetic point of view, Authors suggest to consider both cases heterozygous expression of the defect; though in the daugther this defect is more accentuate.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 16 , Issue 4 , October 1967 , pp. 410 - 416
Copyright
Copyright © The International Society for Twin Studies 1967

References

Bibliografia

Baschieri, L. et al. (1961). Patologia tiroidea dei difetti enzimatici. Folia Endocr., 5: 601.Google Scholar
Bigozzi, U. et al. (1966). Separazione cromatografica delle iodotirosine e delle iodotironine ematiche. Settimana Medica, 54: 551.Google Scholar
Hutchinson, J. H., Mc Girr, E. M. (1956). Sporadic nonendemic goitrous cretinism; hereditary trasmission. Lancet, 1: 1035.Google Scholar
Joseph, R., Job, J. C. (1958). L'hypothyroïdie congénitale avec anomalie de la condensation des iodotyrosines. Arch. Franc. Pediat., 10: 1.Google Scholar
Kusakaba, T., Miyake, T. (1963). Defective deiodination of I131 labeled L-diiodotyrosine in patients with simple goitre. J. Clin. Endocr., 23: 132.Google Scholar
Kusakaba, T., Miyake, T. (1964). Thyroidal deiodination defect in three sisters with simple goitre. J. Clin. Endocr., 24: 456.Google Scholar
Lelong, M. et al. (1956). L'hypothyroïdie par anomalie congénitale de l'hormogénèse (cinq observations). Arch. Franc. Pediat., 3: 232.Google Scholar
Mc Girr, E. M. et. al. (1956). Sporadic nonendemic goitrous cretinism. Identification and significance of monoiodotyrosine and diiodotyrosine in serum and urine. Lancet, 2: 906.Google Scholar
Mc Girr, E. M. et al. (1959). Sporadic goitrous cretinism. Dehalogenase deficiency in the thyroid gland of goitrous cretin and in the heterozygous carriers. Lancet, 2: 823.Google Scholar
Melani, F. et al. (1964). Separazione e dosaggio delle iodotironine e delle iodotirosine mediante cromatografia su strato sottile. G. Biochim., 6: 376.Google Scholar
Moisier, H. D. et al. (1958). Congenital defects in the biosynthesis of thyroid hormone. Report of two cases. Pediatrics, 21: 248.Google Scholar
Parker, R. H., Beierweltes, W. H. (1961). Inheritance of defective organification of iodine in familial goitrous cretinism. J. Clin. Endocr., 21: 21.Google Scholar
Querido, A. et al. (1956). The metabolism of iodotyrosines. Diiodotyrosine deshalogenating activity of human thyroid tissue. J. Clin. Endocr., 16: 106.Google Scholar
Roche, J. et al. (1952). Sur la dehalogénation enzymatique des iodotyrosines par le corps thyroïde et sur son rôle physiologique. Biochem. Biophys. Acta, 9: 161.Google Scholar
Stanbury, J. B. (1951). Cretinism with goitre: a case report. J. Clin. Endocr., 11: 740.Google Scholar
Stanbury, J. B. (1960). The constitutional factor in thyroid disease. Proceed. Roy. Soc. Med., 53: 11, 904.Google Scholar
Stanbury, J. B. Hedge, A. N. (1950). A study of a family of a goitrous cretin. J. Clin. Endocr., 10: 1471.Google Scholar
Stanbury, J. B. Mc Girr, E. M. (1957). Sporadic or nonendemic familial cretinism with goitre. Amer. J. Med., 22: 712.Google Scholar
Stanbury, J. B. et al. (1955). The occurrence of mono- and diiodotyrosine in the blood of the patient with congenital goitre. J. Clin. Endocr., 10: 1216.Google Scholar
Stanbury, J. B. et al. (1956). The metabolism of iodotyrosines. I – The fate of mono – and diiodotyrosine in normal subjects and in patients with various diseases. J. Clin. Endocr., 16: 735.Google Scholar
Stanbury, J. B. et al. (1956). The metabolism of iodotyrosine. II – The metabolism of mono - and diiodotyrosine in certain patients with familial goitre. J. Clin. Endocr., 16: 848.Google Scholar
Stanbury, J. B. (1960). Familial Goitre. The Metabolic Basis of Inherited Disease. McGraw-Hill Book Co., New-York.Google Scholar
Tong, W., Chaikoff, I. L. (1958). Hydrolisis of I131 tyroproteine by pancreatic enzymes. J. Biol. Chem., 232: 939.Google Scholar