X-linked congenital adrenal hypoplasia with a novel NR0B1/DAX gene mutation

Mary Abraham; Vinutha Shetty; Fiona McKenzie; Jacqui Curran

doi:10.1007/s13312-016-0885-1

X-linked congenital adrenal hypoplasia with a novel NR0B1/DAX gene mutation

Mary Abraham, Vinutha Shetty, Fiona McKenzie, Jacqui Curran

Research output: Contribution to journal › Article

1 Citation (Scopus)

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	https://doi.org/10.1007/s13312-016-0885-1
Publication status	Published - 2016

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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

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AU - Abraham, Mary

AU - Shetty, Vinutha

AU - McKenzie, Fiona

AU - Curran, Jacqui

PY - 2016

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N2 - © 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.

AB - © 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.

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