ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 3 Year: 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
Primary Adrenal Insufficiency Caused by a Novel Mutation in DAX1 Gene [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2013; 5(1): 55-57 | DOI: 10.4274/Jcrpe.895

Primary Adrenal Insufficiency Caused by a Novel Mutation in DAX1 Gene

Olcay Evliyaoğlu1, İpek Dokurel1, Feride Bucak1, Bahar Özcabı1, Oya Ercan1, Serdar Ceylaner2
1İstanbul University Cerrahpaşa Faculty Of Medicine, Department Of Pediatric Endocrinology, İstanbul, Turkey
2Intergen, Genetic Diagnosis Research And Application Center, Ankara, Turkey

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.

Keywords: adrenal,Development,insufficiency,DAX1,mutation


Manuscript Language: English
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