© 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.
Abraham, M., Shetty, V., McKenzie, F., & Curran, J. (2016). X-linked congenital adrenal hypoplasia with a novel NR0B1/DAX gene mutation. Indian Pediatrics, 53(6), 529-531. https://doi.org/10.1007/s13312-016-0885-1