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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.
Arq Bras Endocrinol Metabol ; 52(8): 1337-44, 2008 Nov.
Article em En | MEDLINE | ID: mdl-19169491
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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tireoglobulina / Nódulo da Glândula Tireoide / Hipotireoidismo Congênito / Mutação Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Arq Bras Endocrinol Metabol Ano de publicação: 2008 Tipo de documento: Article País de afiliação: Brasil País de publicação: Brasil

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tireoglobulina / Nódulo da Glândula Tireoide / Hipotireoidismo Congênito / Mutação Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Arq Bras Endocrinol Metabol Ano de publicação: 2008 Tipo de documento: Article País de afiliação: Brasil País de publicação: Brasil