SciELO - Scientific Electronic Library Online

 
vol.53 número6Área sob a curva de TSH após suspensão da levotiroxina versus administração do TSH recombinante humano: possíveis implicações no crescimento tumoralCisto hepático benigno simulando metástase de carcinoma diferenciado de tireoide índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados

Journal

Artigo

Indicadores

Links relacionados

Compartilhar


Arquivos Brasileiros de Endocrinologia & Metabologia

versão On-line ISSN 1677-9487

Resumo

MANTOVANI, Rafael Machado; PEZZUTI, Isabela Leite; DIAS, Vera Maria Alves  e  SILVA, Ivani Novato. Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita. Arq Bras Endocrinol Metab [online]. 2009, vol.53, n.6, pp.771-776. ISSN 1677-9487.  http://dx.doi.org/10.1590/S0004-27302009000600013.

OBJECTIVE: To search for mutations in DAX1/NR0B1A gene in siblings to establish the molecular etiology of the adrenal hypoplasia congenita (AHC), a rare potentially life-threatening disorder. CASE REPORT: We describe two siblings who presented with salt-wasting syndrome in the newborn period and received hormonal replacement for primary adrenal insufficiency. A diagnostic hypothesis of AHC was suspected because the children maintained, during hormonal treatment, low plasma 17-OH progesterone (17-OHP) and androgens, despite high ACTH levels. RESULTS: DAX1 gene was studied by molecular analysis, which showed a mutation, confirming the diagnosis in the siblings and a heterozygous state in the mother. Direct sequencing of DAX1 revealed an insertion of an adenine base (c1382-1383 A ins), which lead to a pMet461Asp substitution. CONCLUSION: A novel frameshift mutation of DAX1 gene, which established the molecular etiology of the AHC in the siblings, was identified. Obtaining a precise genetic diagnosis of this adrenal disorder, which, sometimes, cannot be confirmed only by clinical aspects, may have important implications for the long-term management of the disease.

Palavras-chave : Congenital [hereditary]; Congenital [neonatal diseases]; Congenital [abnormalities]; adrenal insufficiency; frameshift mutation; genetic counseling.

        · resumo em Português     · texto em Inglês     · Inglês ( pdf epdf )

 

Creative Commons License Todo o conteúdo deste periódico, exceto onde está identificado, está licenciado sob uma Licença Creative Commons