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Diseases

Genetic and Rare Diseases Information Center (GARD)

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X-linked adrenal hypoplasia congenita


Other Names for this Disease

  • Adrenal hypoplasia congenita
  • Congenital adrenal hypoplasia
  • X-linked AHC
  • X-linked congenital adrenal hypoplasia
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Cause

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What causes X-linked adrenal hypoplasia congenita?

X-linked adrenal hypoplasia congenita is caused by mutations in the NR0B1 gene. The NR0B1 gene provides instructions to make a protein called DAX1. This protein plays an important role in the development and function of several hormone-producing tissues including the adrenal glands, two hormone-secreting glands in the brain (the hypothalamus and pituitary), and the gonads (ovaries in females and testes in males). The hormones produced by these glands control many important body functions.[1]

Some NR0B1 mutations result in the production of an inactive version of the DAX1 protein, while other mutations delete the entire gene. The resulting shortage of DAX1 disrupts the normal development and function of hormone-producing tissues in the body. The signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism occur when endocrine glands do not produce the right amounts of certain hormones.[1]

Last updated: 8/15/2012

References
  1. X-linked adrenal hypoplasia congenita. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita. Accessed 8/15/2012.


Other Names for this Disease
  • Adrenal hypoplasia congenita
  • Congenital adrenal hypoplasia
  • X-linked AHC
  • X-linked congenital adrenal hypoplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.