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

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Abstract

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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Author information

Authors and Affiliations

  1. Department of Endocrinology, Princess Margaret Hospital, Perth, Australia

    Mary B. Abraham, Vinutha B. Shetty & Jacqueline Curran

  2. School of Paediatrics and Child Health, The University of Western Australia, Perth, Australia

    Vinutha B. Shetty, Fiona McKenzie & Jacqueline Curran

  3. Genetic Services of Western Australia, Princess Margaret Hospital & King Edward Memorial Hospital, Perth, Australia

    Fiona McKenzie

Authors
  1. Mary B. Abraham
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  2. Vinutha B. Shetty
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  3. Fiona McKenzie
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  4. Jacqueline Curran
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Corresponding author

Correspondence to Mary B. Abraham.

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Abraham, M.B., Shetty, V.B., McKenzie, F. et al. X-linked congenital adrenal hypoplasia with a novel NR0B1/DAX gene mutation. Indian Pediatr 53, 529–531 (2016). https://doi.org/10.1007/s13312-016-0885-1

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  • DOI: https://doi.org/10.1007/s13312-016-0885-1

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