A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea
Journal of Genetic Medicine
;
: 27-30, 2017.
Artigo
em Inglês
| WPRIM
| ID: wpr-114917
ABSTRACT
Adrenal hypoplasia congenita (AHC) is a rare cause of adrenal insufficiency during neonatal period. Mutations in the gene coding for DAX1 cause X-linked adrenal hypoplasia. Most affected patients are shown to have salt wasting and hyperpigmentation on the skin during the neonatal period and require intensive medical care. In addition, it is usually associated with hypogonadotropic hypogonadism in adolescence. The DAX1 gene is expressed in the adrenal cortex, pituitary gland, hypothalamus, testis, and ovary. We report on a patient with genetically confirmed AHC whose initial clinical presentations were consistent with congenital adrenal hyperplasia. A point mutation in the DAX1 gene identified in this report resulted in a truncated DAX1 protein. Our patient was diagnosed with AHC.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ovário
/
Hipófise
/
Pele
/
Testículo
/
Córtex Suprarrenal
/
Mutação Puntual
/
Hiperpigmentação
/
Insuficiência Adrenal
/
Hiperplasia Suprarrenal Congênita
/
Codificação Clínica
Limite:
Adolescente
/
Feminino
/
Humanos
/
Recém-Nascido
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2017
Tipo de documento:
Artigo
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