Abstract
© 2016, Indian Academy of Pediatrics.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.
Original language | English |
---|---|
Pages (from-to) | 529-531 |
Number of pages | 3 |
Journal | Indian Pediatrics |
Volume | 53 |
Issue number | 6 |
DOIs | |
Publication status | Published - 2016 |