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...

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Bibliographic Details
Published in:Journal of clinical research in pediatric endocrinology 2013-01, Vol.5 (1), p.55-57
Main Authors: Evliyaoğlu, Olcay, Dokurel, İpek, Bucak, Feride, Özcabı, Bahar, Ercan, Özcabı, Ceylaner, Serdar
Format: Article
Language:English
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
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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.
ISSN:1308-5727
1308-5735
DOI:10.4274/Jcrpe.895