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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
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.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
Last updated: 8/15/2012
- 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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- 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 Online Mendelian Inheritance in Man (OMIM) is an 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
- Section on Endocrinology and Committee on Genetics. Technical Report: Congenital Adrenal Hyperplasia. Pediatrics; 2000;106(6):1511-1518.