Primary adrenal insufficiency caused by a novel mutation in DAX1 gene

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 congeni...

Full description

Saved in:
Bibliographic Details
Published inJournal of clinical research in pediatric endocrinology Vol. 5; no. 1; pp. 55 - 57
Main Authors Evliyaoğlu, Olcay, Dokurel, İpek, Bucak, Feride, Özcabı, Bahar, Ercan, Özcabı, Ceylaner, Serdar
Format Journal Article
LanguageEnglish
Published Turkey Galenos Publishing 01.01.2013
Subjects
Addison Disease - genetics
Adrenal Hyperplasia, Congenital - genetics
Adrenal Insufficiency
Case Report
DAX-1 Orphan Nuclear Receptor - genetics
Frameshift Mutation
Genetic Diseases, X-Linked - genetics
Humans
Hypoadrenocorticism, Familial
Infant
Male
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:1308-5727
1308-5735
DOI:10.4274/Jcrpe.895