The analysis of clinical manifestations and genetic mutations in Chinese boys with primary adrenal insufficiency.
J Pediatr Endocrinol Metab
; 25(3-4): 295-300, 2012.
Article
em En
| MEDLINE
| ID: mdl-22768659
ABSTRACT
OBJECTIVES:
To analyze the clinical manifestations of primary adrenal insufficiency in Chinese boys, to investigate the prevalence of DAX1 and SF1 gene mutations, and to explore the association between gene mutations and clinical manifestations. SUBJECTS ANDMETHODS:
A total of 25 boys with primary adrenal insufficiency were enrolled. Mutational analysis of the DAX1 and SF1 genes was done by direct sequencing.RESULTS:
DAX1 gene mutations were found in 40% (10 of 25) of 46,XY phenotypic boys referred with adrenal insufficiency, and six of these were novel. One SF1 gene mutation was identified. These patients demonstrated diverse clinical presentations. There was no definite association between clinical manifestations and genetic mutations.CONCLUSIONS:
DAX1 gene mutations are a relatively frequent cause of primary adrenal insufficiency. In contrast, mutation in the SF1 gene is seldom found. There is no definite relationship between gene mutations and clinical manifestations.
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Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
Doença de Addison
/
Povo Asiático
/
Proteínas de Ligação a DNA
/
Receptor Nuclear Órfão DAX-1
/
Mutação
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Assunto da revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
China