Prenatal Diagnosis of Congenital Lipoid Adrenal Hyperplasia (CLAH) by Molecular Genetic Testing in Korean Siblings
Yonsei Medical Journal
;
: 1035-1038, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-116318
ABSTRACT
Congenital lipoid adrenal hyperplasia (CLAH) is caused by mutations to the steroidogenic acute regulatory protein (StAR) gene associated with the inability to synthesize all adrenal and gonadal steroids. Inadequate treatment in an infant with this condition may result in sudden death from an adrenal crisis. We report a case in which CLAH developed in Korean siblings; the second child was prenatally diagnosed because the first child was affected and low maternal serum estriol was detected in a prenatal screening test. To our knowledge, this is the first prenatal diagnosis of the Q258X StAR mutation, which is the only consistent genetic cluster identified to date in Japanese and Korean populations.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Testes Genéticos
/
Hiperplasia Suprarrenal Congênita
/
Povo Asiático
/
Transtorno 46,XY do Desenvolvimento Sexual
/
Coreia (Geográfico)
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Yonsei Medical Journal
Ano de publicação:
2011
Tipo de documento:
Artigo
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