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  

Arquivos Brasileiros de Endocrinologia & Metabologia

versão On-line ISSN 1677-9487


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.

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