Título:	Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16)
Outros títulos:	Hipotireoidismo neonatal transitório em um menino com translocação não balanceada t(8;16)
Autor(es):	Secchi, Luciana Antunes de Almeida Araújo, Juliana Forte Mazzeu de Córdoba, Mara Santos Ferrari, Íris Ramos, Helton Estrela Neves, Francisco de Assis Rocha
Assunto:	Tireóide - doenças Hipotireoidismo Genética humana Cromossomos humanos - anomalias
Data de publicação:	Nov-2012
Editora:	Sociedade Brasileira de Endocrinologia e Metabologia
Referência:	SECCHI, Luciana A. de A. et al. Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16). Arquivos Brasileiros de Endocrinologia & Metabologia, São Paulo, v. 56, n. 8, nov. 2012. Disponível em: <http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302012000800017&lng=pt&nrm=iso&tlng=en>. Acesso em: 20 maio 2013. http://dx.doi.org/10.1590/S0004-27302012000800017.
Abstract:	Genetic defects resulting in deficiency of thyroid hormone synthesis can be found in about 10% of the patients with permanent congenital hypothyroidism, but the identification of genetic abnormalities in association with the transient form of the disease is extremely rare. We report the case of a boy with transient neonatal hypothyroidism that was undiagnosed in the neonatal screening, associated with extrathyroid malformations and mental retardation. The boy carries an unbalanced translocation t(8;16), and his maternal uncle had a similar phenotype. Chromosomal analysis defined the patient's karyotype as 46,XY,der(8)t(8;16)(q24.3;q22)mat,16qh+. Array-CGH with patient's DNA revealed a ~80 kb terminal deletion on chromosome 8q24.3qter, and a ~21 Mb duplication on chromosome 16q22qter. ZNF252 gene, mapped to the deleted region on patient's chromosome 8, is highly expressed in the thyroid, and may be a candidate gene for our patient's transient neonatal thyroid dysfunction. This is the first report on the association of a chromosomal translocation with the transient form of congenital hypothyroidism. This description creates new hypothesis for the physiopathology of transient congenital hypothyroidism, and may also contribute to the definition of the unbalanced translocation t(8;16)(q24.3;q22) phenotype, which has never been described before.
Licença:	Arquivos Brasileiros de Endocrinologia & Metabologia - Todo o conteúdo deste periódico, exceto onde está identificado, está licenciado sob uma Licença Creative Commons (Attribution-NonCommercial 3.0 Unported (CC BY-NC 3.0)). Fonte: http://www.scielo.br/scielo.php?script=sci_serial&pid=0004-2730&lng=pt&nrm=iso. Acesso em 20 maio 2013.
DOI:	http://dx.doi.org/10.1590/S0004-27302012000800017
Aparece nas coleções:	Artigos publicados em periódicos e afins

Os itens no repositório estão protegidos por copyright, com todos os direitos reservados, salvo quando é indicado o contrário.