Article
Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2012
Esden-Tempska Zofia, Lewczuk Anna, Tobias Edward S, Borozdin Wiktor, Kohlhase Juergen, Sworczak Krzysztof
Abstract excerpt
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 D...
Topics
- Adrenal Hyperplasia, Congenital
- Adrenal Insufficiency
- Adult
- DAX-1 Orphan Nuclear Receptor
- Delayed Diagnosis
- Genetic Diseases, X-Linked
- Humans
- Hypoadrenocorticism, Familial
- Male
- Mutation