Alu Sx repeat-induced homozygous deletion of the StAR gene causes lipoid congenital adrenal hyperplasia

@article{EidenPlach2012AluSR,
  title={Alu Sx repeat-induced homozygous deletion of the StAR gene causes lipoid congenital adrenal hyperplasia},
  author={Antje Eiden-Plach and Huy-Hoang Nguyen and Ursula Schneider and Michaela F. Hartmann and Stefan Alexander Wudy},
  journal={The Journal of Steroid Biochemistry and Molecular Biology},
  year={2012},
  volume={130},
  pages={1-6}
}
Lipoid congenital adrenal hyperplasia (Lipoid CAH) is the most severe form of the autosomal recessive disorder CAH. A general loss of the steroid biosynthetic activity caused by defects in the StAR gene manifests as life-threatening primary adrenal insufficiency. We report a case of Lipoid CAH caused by a so far not described homozygous deletion of the complete StAR gene and provide diagnostic results based on a GC-MS steroid metabolomics and molecular genetic analysis. The patient presented… CONTINUE READING
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