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

Mary Abraham, Vinutha Shetty, Fiona McKenzie, Jacqui Curran

    Research output: Contribution to journalArticle

    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 languageEnglish
    Pages (from-to)529-531
    Number of pages3
    JournalIndian Pediatrics
    Volume53
    Issue number6
    DOIs
    Publication statusPublished - 2016

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