European Journal of Pediatrics

, Volume 168, Issue 3, pp 367–369

A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita

  • Esra Arun Ozer
  • Aysun Kaya
  • Munevver Yildirimer
  • Ozlem Guler
  • Sule Can
  • Halil Aydinlioglu
Short Report

DOI: 10.1007/s00431-008-0778-y

Cite this article as:
Ozer, E.A., Kaya, A., Yildirimer, M. et al. Eur J Pediatr (2009) 168: 367. doi:10.1007/s00431-008-0778-y

Abstract

Adrenal hypoplasia congenita (AHC) is a rare inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. A novel DAX1 (NR0B1) gene mutation was detected in a Turkish newborn boy presenting with primary adrenal insufficiency. He was from a family with a history of unexplained death of three male siblings in the neonatal period. This report highlights the value of mutational analysis of the DAX1 gene for definitive diagnosis of AHC as well as for genetic counselling because this disorder shows an X-linked genetic pattern of transmission, providing the possibility of finding new cases even in presymptomatic individuals.

Keywords

Adrenal hypoplasia congenitaChildrenDAX1NR0B1

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Esra Arun Ozer
    • 1
    • 2
  • Aysun Kaya
    • 1
  • Munevver Yildirimer
    • 1
  • Ozlem Guler
    • 1
  • Sule Can
    • 1
  • Halil Aydinlioglu
    • 1
  1. 1.Department of NeonatologyIzmir Tepecik Training and Research HospitalIzmirTurkey
  2. 2.IzmirTurkey