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Diseases

Genetic and Rare Diseases Information Center (GARD)

X-linked adrenal hypoplasia congenita


Other Names for this Disease
  • X-linked congenital adrenal hypoplasia
  • X-linked AHC
  • Adrenal hypoplasia congenita
  • Congenital adrenal hypoplasia
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Overview

X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. Congenital adrenal hypoplasia is characterized by adrenal insufficiency, which may be life threatening, and hypogonadotropic hypogonadism. Congenital adrenal hypoplasia is caused by mutations in the NR0B1 gene. It is inherited in an X-linked recessive pattern.[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.
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Basic Information

  • Genetics Home Reference (GHR) contains information on X-linked adrenal hypoplasia congenita. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss X-linked adrenal hypoplasia congenita. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • X-linked congenital adrenal hypoplasia
  • X-linked AHC
  • Adrenal hypoplasia congenita
  • 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.