Primary adrenal insufficiency caused by a novel mutation in DAX1 gene

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EVLİYAOĞLU S. O., Dokurel I., Bucak F., Özcabi B., ERCAN O., CEYLANER S.

JCRPE Journal of Clinical Research in Pediatric Endocrinology, vol.5, no.1, pp.55-57, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 5 Issue: 1
  • Publication Date: 2013
  • Doi Number: 10.4274/jcrpe.895
  • Journal Name: JCRPE Journal of Clinical Research in Pediatric Endocrinology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.55-57
  • Keywords: Adrenal, development, insufficiency, DAX1, mutation, HYPOPLASIA CONGENITA, HYPOGONADOTROPIC HYPOGONADISM, GONADAL AXIS, NR0B1 GENE, DIAGNOSIS, PITUITARY, DEFICIENCY, EXPERIENCE, CHILDREN, SPECTRUM
  • Lokman Hekim University Affiliated: No

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. © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing.