Evliyaoğlu Olcay, Dokurel İpek, Bucak Feride, Özcabı Bahar, Ercan Özcabı, Ceylaner Serdar
Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul University Cerrahpaşa, İstanbul, Turkey.
J Clin Res Pediatr Endocrinol. 2013;5(1):55-7. doi: 10.4274/Jcrpe.895.
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.
先天性肾上腺发育不全（AHC）是一种罕见的疾病。X连锁型与DAX1（NROB1）基因突变有关。在此，我们报告一名新生儿，其DAX1基因存在一种新的半合子移码突变（c.543delA），并表现为原发性肾上腺功能衰竭，最初被误诊为先天性肾上腺增生。本报告强调了基因检测对于因肾上腺发育异常导致原发性肾上腺功能衰竭患儿明确诊断的价值，为症状前诊断以及在有患此病同胞的情况下进行产前诊断提供了可能性。
