Format

Send to

Choose Destination
J Clin Res Pediatr Endocrinol. 2013;5(1):55-7. doi: 10.4274/Jcrpe.895.

Primary adrenal insufficiency caused by a novel mutation in DAX1 gene.

Author information

1
Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul University Cerrahpaşa, İstanbul, Turkey. olcayevliyaoglu@hotmail.com

Abstract

Adrenal hypoplasia congenita (AHC) is a rare disorder. The X-linked form is related to mutations in the DAX1 (NROB1) gene. Here, we report a newborn who had a novel hemizygous frameshift mutation in DAX1(c.543delA) and presented with primary adrenal failure that was initially misdiagnosed as congenital adrenal hyperplasia. This report highlights the value of genetic testing for definite diagnosis in children with primary adrenal failure due to abnormal adrenal gland development, providing the possibility both for presymptomatic, and in cases with a sibling with this condition, for prenatal diagnosis.

PMID:
23367499
PMCID:
PMC3628394
DOI:
10.4274/Jcrpe.895
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Galenos Yayinevi Icon for PubMed Central
Loading ...
Support Center