Indian pediatrics · 2016
X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Abraham Mary B, Shetty Vinutha B, McKenzie Fiona, Curran Jacqueline
Аннотация
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.
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.