title: X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation.
abstract: BACKGROUND
  The etiology of primary adrenal insufficiency has implications for further management of the condition.
  
  
  METHODS
  A 5-year-old boy presented in adrenal crisis with glucocorticoid and mineralocorticoid deficiency.
  
  
  METHODS
  Investigations confirmed primary adrenal insufficiency and ruled out the common etiologies. Genetic testing identified a novel NR0B1/DAX gene mutation.
  
  
  CONCLUSIONS
  A genetic diagnosis in children with primary adrenal insufficiency is useful to provide genetic counselling.
authors.affiliation: Department of Endocrinology, Princess Margaret Hospital,; #School of Paediatrics and Child Health, The University of Western Australia; and $Genetic Services of Western Australia, Princess Margaret Hospital and King Edward Memorial Hospital; Perth, Australia. Correspondence to: Dr Mary B Abraham, Department of Endocrinology and Diabetes, Princess Margaret Hospital, Perth, Australia. Mary.Abraham@health.wa.gov.au.
authors.forename: Mary B
authors.initials: MB
authors.lastname: Abraham
authors.forename: Vinutha B
authors.initials: VB
authors.lastname: Shetty
authors.forename: Fiona
authors.initials: F
authors.lastname: McKenzie
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Curran
mesh_terms: D000309:Adrenal Insufficiency / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D002675:Child, Preschool; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D000075262:Hypoadrenocorticism, Familial; D008297:Male; D009154:Mutation / Q000235:genetics
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; C539965:NR0B1 protein, human