X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation.
Indian Pediatr
;
2016 June; 53(6): 529-531
Artigo
em Inglês
| IMSEAR
| ID: sea-179099
ABSTRACT
Background:
The etiology of primary adrenal insufficiency has implications for further management of the condition. Case characteristics A 5-year-old boy presented in adrenal crisis with glucocorticoid and mineralocorticoid deficiency. Observation Investigations confirmed primary adrenal insufficiency and ruled out the common etiologies. Genetic testing identified a novel NR0B1/DAX gene mutation. Message A genetic diagnosis in children with primary adrenal insufficiency is useful to provide genetic counselling.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Tipo de estudo:
Estudo prognóstico
Idioma:
Inglês
Revista:
Indian Pediatr
Ano de publicação:
2016
Tipo de documento:
Artigo
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