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A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation

Authors :
Meyer Knobel
Viviane Pardo
Ileana G.S. Rubio
Ana Luiza Galrao
Geraldo Medeiros-Neto
Simone A. Gomes
Cristina Takami Kanamura
Rosalinda Camargo
Marcelo Alves Ferreira
Roberta F. Possato
Source :
Arquivos Brasileiros de Endocrinologia & Metabologia. 52:1337-1344
Publication Year :
2008
Publisher :
FapUNIFESP (SciELO), 2008.

Abstract

OBJECTIVE: To extend the molecular analysis of the IVS30+1G>T intronic thyroglobulin (TG) mutation, and to report the eleven year follow-up of the affected patients. METHOSD: Two siblings with severe congenital hypothyroidism with fetal and neonatal goiter, harboring the IVS30+1G>T mutation were included. Nodular and non-nodular thyroid tissue specimens were collected. Specific thyroid genes expression was evaluated by real-timePCR and by immunohistochemistry. RESULTS: In non-nodular tissue specific thyroid genes mRNA were reduced when compared to normal thyroid sample. In the nodule, TPO and NIS expression was very low. Microscopic examinations showed very large follicular-lumina and swollen vesicles of endoplasmatic-reticulum. Strong cytoplasmatic and low follicular-lumen TG immunostaining were detected. Intracellular NIS, membrane TPO and TSHR immunostaining had higher positivity in non-nodular sample. Both patients had a long-term adequate developmental outcome, besides one patient have been lately-treated. CONCLUSIONS: IVS30+1G>T mutation not only lead to very enlarge endoplasmatic-reticulum, but also to alterations of specific thyroid genes expression. The clinical evolution of patients harboring these mutations strengthen the concept of the influence of environment, like iodine nutrition, to determine the final phenotypic appearance.

Details

ISSN :
00042730
Volume :
52
Database :
OpenAIRE
Journal :
Arquivos Brasileiros de Endocrinologia & Metabologia
Accession number :
edsair.doi.dedup.....06fa08ca189de7e7b992a9941dedaf73
Full Text :
https://doi.org/10.1590/s0004-27302008000800022