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 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.
Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul University Cerrahpaşa, İstanbul, Turkey. olcayevliyaoglu@hotmail.com
Olcay
O
Evliyaoğlu
İpek
İ
Dokurel
Feride
F
Bucak
Bahar
B
Özcabı
Özcabı
Ö
Ercan
Serdar
S
Ceylaner
D000224:Addison Disease / Q000235:genetics*; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000309:Adrenal Insufficiency; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics*; D016368:Frameshift Mutation; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D000075262:Hypoadrenocorticism, Familial; D007223:Infant; D008297:Male
D057137:DAX-1 Orphan Nuclear Receptor; C539965:NR0B1 protein, human