X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Mutation of the DAX-1 gene in a patient

Çatli G., Anik A., ABACI A., Shalva N., BÖBER E.

Turkiye Klinikleri Pediatri, vol.23, no.3, pp.134-137, 2014 (Scopus) identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 3
  • Publication Date: 2014
  • Journal Name: Turkiye Klinikleri Pediatri
  • Journal Indexes: Scopus
  • Page Numbers: pp.134-137
  • Keywords: Human, Hypogonadism, NR0B1 protein, X-linked adrenal hypoplasia congenita
  • Dokuz Eylül University Affiliated: Yes


Copyright © 2014 by Türkiye Klinikleri.X-linked adrenal hypoplasia congenita (AHC), an inherited disorder of the development of the adrenal cortex which results from the loss of function mutations of the DAX1 gene is frequently associated with hypogonadotrophic hypogonadism. Here, we report a case of a 2 monthold boy who initially presented with salt-losing primary adrenal failure and at follow-up diagnosed as hypogonadotropic hypogonadism. Genetic analyses of the patients was found a mutation at the C-terminus of exon 1 of the DAX-1 gene, which is a 1-base deletion (423DelG) inherited from the mother. In this case, close patient follow-up and genetic confirmation of the disease led to prompt identification of the patient's gonadal axis deficiency and this minimized the deleterious consequences of an erroneous diagnosis. We present this rare cause of primary adrenal failure in infancy in order to highlight the importance of the early precise diagnosis of patients with AHC.