Inborn Errors of Iodine Metabolism in Greece
| Autor: | J. Sfontouris, B. Malamos, D. A. Koutras, G. A. Rigopoulos |
|---|---|
| Rok vydání: | 1964 |
| Předmět: |
medicine.medical_specialty
business.industry medicine.medical_treatment Thyroid Thyroidectomy chemistry.chemical_element General Medicine medicine.disease Iodine Perchlorate chemistry.chemical_compound medicine.anatomical_structure Thyroid dyshormonogenesis Endocrinology chemistry Internal medicine medicine Radiology Nuclear Medicine and imaging Euthyroid Sibling business Aunt |
| Zdroj: | Nuklearmedizin. :45-55 |
| ISSN: | 2567-6407 0029-5566 |
| DOI: | 10.1055/s-0037-1621239 |
| Popis: | SummaryIn the last two years, three families with an inborn error in iodine metabolism (thyroid dyshormonogenesis) have been detected and studied at the Department of Clinical Therapeutics of Athens University, and this shows that such defects, although rare, are not absent from Greece.From the first family three siblings were studied. A boy of 18 and a girl of 10 years were typical goitrous cretins, and a perchlorate discharge test showed impaired organic binding of the iodine trapped by the thyroid gland. The third sibling, a girl of 15, was euthyroid but had a diffuse goitre and a slightly increased uptake of radioiodine by the thyroid. The perchlorate discharge test, performed twice, was consistently negative. If the goitre in this last case represents a minor degree of the same metabolic abnormality as in the two other siblings with goitrous cretinism, it may be concluded that minor degree of impaired organic binding of iodide may not be detectable by the perchlorate test.The second family was affected with Pendred’s syndrome, i.e. goitre with deaf-mutism and positive perchlorate discharge. The father of the proposita (a woman of 29) and two maternal uncles and a maternal aunt were similarly affected. The occurrence of the syndrome in more than one generation is rare, since it is transmitted by a recessive gene. A sister of the proposita had a goitre without deaf-mutism, and this suggests that partial forms of the syndrome may perhaps occur in relatives of typical cases.The third family consisted of two brothers, who developed a large goitre soon after puberty. Thyroidectomy was followed by hypothyroidism. Biochemical investigations revealed the presence of a butanol-insoluble iodinated compound in the serum.The search for thyroid auto-antibodies by the tanned-redcell agglutination and the complement-fixation technique gave negative results in all the cases. |
| Databáze: | OpenAIRE |
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