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Molecular diagnosis in suspected patients with thyroglobulin and thyroperoxidase deficiencies

Grant number: 08/04786-0
Support Opportunities:Scholarships in Brazil - Scientific Initiation
Effective date (Start): November 01, 2008
Effective date (End): October 31, 2010
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Suemi Marui
Grantee:Ester Saraiva Brust
Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil


Inborn thyroid hormone synthesis errors or dishormonogenesis account for 10-15% of congenital hypothyroidism patients. The molecular diagnosis validates the etiologic diagnosis, helping to distinguish between different defects and genetic counseling. The most common defects are iodine organification defect, caused by mutation in thyroperoxidase (TPO) and THOX2 and thyroglobulin (TG) defect, caused by mutation in TG gene. Iodine uptake is always elevated in all with rapid decline in iodine clearance thus the iodine organification and thyroid hormone synthesis defects are not distinguished. Therefore, intravenous perchlorate test helps to discern these etiologies. In our ongoing study, intravenous perchlorate test, together with TG levels allowed identifying the defects, but we noted diagnosis overlapping. The mutation identification will help to confirm, explain and stipulate perchlorate test values and TG levels that classify most common dishormonogenesis etiologies. (AU)

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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
BRUST, ESTER S.; BELTRAO, CRISTINE B.; CHAMMAS, MARIA C.; WATANABE, TOMOCO; SAPIENZA, MARCELO T.; MARUI, SUEMI. Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis. Arquivos Brasileiros de Endocrinologia e Metabologia, v. 56, n. 3, p. 173-177, . (06/05800-1, 08/04786-0)

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