ESPE Abstracts (2016) 86 P-P2-65

A Novel Mutation of DAX-1 (NR0B1) in a Boy with X-linked Adrenal Hypoplasia Congenita

Karine Gerstera, Claudia Katschniga, Sascha Wyssb, Anne Kollyb, Anna Biason-Lauberb & Daniel Konrada


aUniversity Children’s Hospital, Zurich, Switzerland; bUniversity of Fribourg, Fribourg, Switzerland


Background: DAX-1 (NR0B1) plays a key role in adrenal and reproductive development. It interacts with other nuclear receptors; however, its exact biological role remains unclear. In men most patients with X-linked adrenal hypoplasia congenita (AHC) present with acute adrenal failure. To date DAX-1 mutations have been found in more than 100 families or patients with X-linked AHC.

Results: We report the case of a 2.5-year-old boy who presented with a history of recurrent vomiting and progressive hyperpigmentation of the skin over 6 months. Finally, acute adrenal failure with salt loosing crisis was diagnosed and treated accordingly. Family history revealed sudden death of three brothers of the mother during infancy. Direct sequencing of PCR fragments amplified from genomic DNA of the patient revealed the presence of a novel hemizygous nonsense mutation, c.870C>A in Exon 1, leading to the formation a premature stop codon.

Conclusion: In any child presenting with isolated vomiting acute adrenal failure has to be assessed. Furthermore, this report shows a novel DAX-1 mutation and underlines the importance of genetic confirmation of the diagnosis to counsel the family and prevent other fatal outcomes.

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