Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene.

@article{EsdenTempska2012DelayedDO,
  title={Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene.},
  author={Zofia Esden-Tempska and Anna A Lewczuk and Edward S. Tobias and Wiktor Borozdin and Juergen Kohlhase and Krzysztof Sworczak},
  journal={Journal of pediatric endocrinology & metabolism : JPEM},
  year={2012},
  volume={25 1-2},
  pages={147-8}
}
Determining the precise cause of adrenal insufficiency occurring in infancy is of critical importance for both the correct management of affected children and the provision of correct genetic advice to their families. We report a case of a 24-year-old, male patient bearing a new mutation in the DAX1 gene. The patient was born at term, from a healthy pregnancy. Adrenal insufficiency was diagnosed in the fourth week of life with a salt-wasting syndrome, but it was mistakenly believed to be… CONTINUE READING