X-linked adrenal hypoplasia congenita: Difference between revisions
No edit summary |
m (Robot: Automated text replacement (-{{reflist}} +{{reflist|2}}, -<references /> +{{reflist|2}}, -{{WikiDoc Cardiology Network Infobox}} +)) |
||
| (One intermediate revision by the same user not shown) | |||
| Line 14: | Line 14: | ||
}} | }} | ||
{{SI}} | {{SI}} | ||
==Overview== | ==Overview== | ||
'''X-linked adrenal hypoplasia congenita''' is a [[genetic disorder]]<ref name="pmid11549627">{{cite journal |author=Domenice S, Latronico AC, Brito VN, Arnhold IJ, Kok F, Mendonca BB |title=Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene |journal=J. Clin. Endocrinol. Metab. |volume=86 |issue=9 |pages=4068–71 |year=2001 |month=September |pmid=11549627 |doi= |url=http://jcem.endojournals.org/cgi/pmidlookup?view=long&pmid=11549627}}</ref> that mainly affects males. It involves many [[endocrine]] tissues in the body, especially the [[adrenal glands]]. | '''X-linked adrenal hypoplasia congenita''' is a [[genetic disorder]]<ref name="pmid11549627">{{cite journal |author=Domenice S, Latronico AC, Brito VN, Arnhold IJ, Kok F, Mendonca BB |title=Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene |journal=J. Clin. Endocrinol. Metab. |volume=86 |issue=9 |pages=4068–71 |year=2001 |month=September |pmid=11549627 |doi= |url=http://jcem.endojournals.org/cgi/pmidlookup?view=long&pmid=11549627}}</ref> that mainly affects males. It involves many [[endocrine]] tissues in the body, especially the [[adrenal glands]]. | ||
| Line 27: | Line 27: | ||
==References== | ==References== | ||
{{reflist}} | {{reflist|2}} | ||
''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine]'' | ''This article incorporates public domain text from [http://ghr.nlm.nih.gov The U.S. National Library of Medicine]'' | ||
| Line 33: | Line 33: | ||
{{X-linked disorders}} | {{X-linked disorders}} | ||
{{Transcription factor deficiencies}} | {{Transcription factor deficiencies}} | ||
[[category:genetic disorders]] | [[category:genetic disorders]] | ||
Latest revision as of 16:01, 6 September 2012
| X-linked adrenal hypoplasia congenita | |
| OMIM | 300200 |
|---|---|
| DiseasesDB | 32988 |
Overview
X-linked adrenal hypoplasia congenita is a genetic disorder[1] that mainly affects males. It involves many endocrine tissues in the body, especially the adrenal glands.
Presentation
One of the main characteristics of this disorder is adrenal insufficiency, a reduction in adrenal gland function that results from incomplete development of the gland's outer layer (the adrenal cortex). Adrenal insufficiency typically begins in infancy or in childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock.
Affected males may also lack male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles (cryptorchidism), delayed puberty, and an inability to father children (infertility). These characteristics are known as hypogonadotropic hypogonadism. Females are rarely affected by this disorder, but a few cases have been reported of adrenal insufficiency or a lack of female sex hormones, resulting in underdeveloped reproductive tissues, delayed puberty, and an absence of menstruation.
Genetics
Mutations in the NR0B1 gene located on the X chromosome (Xp21.3-p21.2) cause X-linked adrenal hypoplasia congenita. The NR0B1 gene provides instructions to make a transcription factor protein called DAX1 that helps control the activity of certain genes. When the NR0B1 gene is deleted or mutated, the activity of certain genes is not properly controlled. This leads to problems with the development of the adrenal glands, two structures in the brain (the hypothalamus and pituitary gland), and reproductive tissues (the ovaries or testes). These tissues are important for the production of many hormones that control various functions in the body. When these hormones are not present in the correct amounts, the signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism can result. This condition is inherited in an X-linked recessive pattern.
References
- ↑ Domenice S, Latronico AC, Brito VN, Arnhold IJ, Kok F, Mendonca BB (2001). "Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene". J. Clin. Endocrinol. Metab. 86 (9): 4068–71. PMID 11549627. Unknown parameter
|month=ignored (help)
This article incorporates public domain text from The U.S. National Library of Medicine
Template:X-linked disorders Template:Transcription factor deficiencies