Molecular diagnosis in Suspected Patients with Thyroglobulin and Thyroperoxidase Deficiencies.

• Grant number: 08/04786-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: November 01, 2008
• End date: 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

Abstract

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.

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, APR 2012. (06/05800-1, 08/04786-0)