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Updated: May 14, 2026

A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
Primary adrenal insufficiency caused by a novel mutation in DAX1 gene
Olcay Evliyaoğlu1, İpek Dokurel, Feride Bucak
1Faculty 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.
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