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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

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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

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