21-hydroxylase deficiency causes: Difference between revisions

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{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
{{21-hydroxylase deficiency}}


{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}, {{AAM}}
==Overview==
21-hydroxylase deficiency is caused by [[mutations]] in [[CYP21A1]] and [[CYP21A2]] [[genes]] found on [[Chromosome 6|chromosome 6.]] Approximately 70% of [[CYP21A2]] disease is due to [[gene conversion]] and [[Microdeletion|microdeletions]] in [[CYP21A1]] [[gene]]; around 25% to 30% are chimeric [[genes]] due to large [[Deletion (genetics)|deletions]]. Less common causes are due to [[De novo mutation|de novo]] [[mutations]] because of high variability of the [[CYP21A2]] [[locus]]. Also, [[chromosome 6]] [[uniparental disomy]] is rare cause of 21-hydroxylase deficiency with an unknown [[prevalence]].
==Causes==
===Life-Threatening Causes===
* Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of 21-hydroxylase deficiency.


===Template===
=== Common causes  ===
*'''First Sentence:'''
[[Mutations]] in [[CYP21A1]] and [[CYP21A2]] [[gene]] on [[Chromosome 6|chromosome 6.]]
:[Disease name] may be caused by either [cause1], [cause2], or [cause3].
* Approximately 70% of disease associated with [[CYP21A2]] is due to [[gene conversion]] and [[Microdeletion|microdeletions]] in [[CYP21A1]] [[gene]].
:OR
* Approximately 25% to 30% are [[Chimera (genetics)|chimeric]] [[genes]] due to large [[Deletion (genetics)|deletions]].
:Life threatening causes of [symptom/manifestation] include [cause1], [cause2], and [cause3].
:OR
:[Cause] is a life threatening cause of [disease].
:OR
:Common causes of [disease name] include [cause1], [cause2], and [cause3].
:OR
:[Disease name] is caused by an infection with [pathogen name].
:OR
:[Pathogen name] infection is caused by [pathogen name], [description of pathogen].
:OR
:The cause of [disease name] has not been identified.
:OR
:There are no established causes for [disease name].
:OR
:[Disease name] is caused by a mutation in the [gene name] gene.
:OR
:Common causes of [disease name] include [cause1] and [cause2]. Less common causes of [disease name] include [cause 3], [cause 4], and [cause 5].
*'''Examples:'''
:Example 1: Focal segmental glomerulosclerosis of the kidneys may be caused by either genetic diseases, viruses, malignancies, or drugs.
:Example 2: Life threatening causes of chest pain include myocardial infarction, pulmonary embolism, tension pneumothorax, cardiac tamponade, esophageal rupture, and aortic dissection.
:Example 3: Esophageal perforation is a life-threatening cause of mediastinitis.
:Example 4: Common causes of neonatal meningitis include ''E. coli'', ''Group B Steptococcus'', and ''Listeria monocytogenes''.
:Example 5: Legionellosis is caused by an infection with ''Legionella'' spp.
:Example 6: Clostridium difficile infection is caused by ''Clostridium difficile'', a spore-forming, toxin-producing, obligate anaerobic, gram-positive bacillus.
:Example 7: The cause of acinic cell carcinoma has not been identified.
:Example 8: There are no established causes for acinic cell carcinoma.
:Example 9: Retinoblastoma is caused by a mutation in the RB1 gene.
:Example 10: Common causes of PID include Neisseria gonorrhoeae and Chlamydia trachomatis. Less common causes of PID include Bacteroides, Enterococci, Mycoplasma and Staphylococci.
*'''Additional Sentences:'''
:[Pathogen] belongs to the [pathogen family] family.
:OR
:[Pathogen] is a [feature1], [feature2], [feature3], gram-[positive/negative] [shape].
:OR
:Other causes of [disease name] include [cause 1], [cause 2], and [cause 3].
*'''Examples
:Example 1: Influenza belongs to the Orthomyxoviridae family.
:Example 2: ''C. difficile'' is a spore-forming, toxin-producing, obligate anaerobic, gram-positive bacillus.
:Example 3: Salmonella spp. is a motile, lactose-fermenting, facultative intracellular gram-negative rod.
:Example 4: Influenza is an enveloped, pleomorphic, segmented virus with a negative-sense, single-stranded RNA genome.
:Example 5: Other causes of PID include Bacteroides, Enterococci, Mycoplasma and Staphylococci.
 
==Template==
===Life-Threatening Causes===
<code>Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated.</code>
* Life threatening causes do not include chronic conditions.
* Make sure to include the following definition underneath the subheading of every life threatening causes section: Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated.
* The list of life threatening causes is arranged in alphabetical order.
* If the page's disease is itself life-threatening, do not add causes in the life-threatening causes section. Instead, write the following sentence under the subheading: Disease name is a life-threatening condition and must be treated as such irrespective of the causes.  Life-threatening conditions may result in death or permanent disability within 24 hours if left untreated.


===Common Causes===
=== Uncommon causes ===
* This section is to outline the most common causes of the disease or condition you are describing.
* Approximately 1% to 2% of cases are due to [[De novo mutation|de novo mutations]] because of high variability of the [[CYP21A2]] [[locus]].
* This can be done in a list form where causes are arranged in alphabetical order.
* [[Chromosome 6]] [[uniparental disomy]] is a rare cause of [[21-hydroxylase]] deficiency with an unknown [[prevalence]].<ref name="pmid20926536">{{cite journal |vauthors=Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP |title=Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=1 |pages=E161–72 |year=2011 |pmid=20926536 |pmc=3038490 |doi=10.1210/jc.2010-0319 |url=}}</ref><ref name="pmid23359698">{{cite journal |vauthors=New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T |title=Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=110 |issue=7 |pages=2611–6 |year=2013 |pmid=23359698 |pmc=3574953 |doi=10.1073/pnas.1300057110 |url=}}</ref><ref name="pmid20926536">{{cite journal |vauthors=Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP |title=Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=1 |pages=E161–72 |year=2011 |pmid=20926536 |pmc=3038490 |doi=10.1210/jc.2010-0319 |url=}}</ref><ref name="pmid3487786">{{cite journal |vauthors=White PC, New MI, Dupont B |title=Structure of human steroid 21-hydroxylase genes |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=83 |issue=14 |pages=5111–5 |year=1986 |pmid=3487786 |pmc=323900 |doi= |url=}}</ref><ref name="pmid2831244">{{cite journal |vauthors=Fiet J, Gueux B, Gourmelen M, Kuttenn F, Vexiau P, Couillin P, Pham-Huu-Trung MT, Villette JM, Raux-Demay MC, Galons H |title=Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia |journal=J. Clin. Endocrinol. Metab. |volume=66 |issue=4 |pages=659–67 |year=1988 |pmid=2831244 |doi=10.1210/jcem-66-4-659 |url=}}</ref>


===Causes by Organ System===
===Causes by Organ System===
* To obtain the coding for the table seen below, click [[Differential diagnosis by organ system table|here]]. You need to copy the table content from the edit box, and paste it into the edit box.
{| style="width:80%; height:100px" border="1"
* You can then list the causes by organ system. List the causes, separated by a comma under the appropriate category where it says "No underlying causes". Erase "No underlying causes" if you are listing causes in that category.
| style="width:25%" bgcolor="lightsteelblue" ; border="1" |
* For an example of the causes by organ system table in a causes microchapter, click [[Jaundice causes#Causes by Organ System|here]].
| style="width:75%" bgcolor="beige" ; border="1" | No underlying causes
 
 
{|style="width:80%; height:100px" border="1"
|style="height:100px"; style="width:25%" border="1" bgcolor="LightSteelBlue" |'''Cardiovascular'''
|style="height:100px"; style="width:75%" border="1" bgcolor="Beige" | No underlying causes
|-
|-
|bgcolor="LightSteelBlue"| '''Chemical/Poisoning'''
| bgcolor="lightsteelblue" | '''Chemical/Poisoning'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Dental'''
| '''Dental'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Dermatologic'''
| '''Dermatologic'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Drug Side Effect'''
| '''Drug Side Effect'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Ear Nose Throat'''
| '''Ear Nose Throat'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Endocrine'''
| '''Endocrine'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Environmental'''
| '''Environmental'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Gastroenterologic'''
| '''Gastroenterologic'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Genetic'''
| '''Genetic'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | [[Mutations|Mutations]] in CYPA21 [[gene]]
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Hematologic'''
| '''Hematologic'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Iatrogenic'''
| '''Iatrogenic'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Infectious Disease'''
| '''Infectious Disease'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Musculoskeletal/Orthopedic'''
| '''Musculoskeletal/Orthopedic'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Neurologic'''
| '''Neurologic'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Nutritional/Metabolic'''
| '''Nutritional/Metabolic'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Obstetric/Gynecologic'''
| '''Obstetric/Gynecologic'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Oncologic'''
| '''Oncologic'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Ophthalmologic'''
| '''Ophthalmologic'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Overdose/Toxicity'''
| '''Overdose/Toxicity'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Psychiatric'''
| '''Psychiatric'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Pulmonary'''
| '''Pulmonary'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Renal/Electrolyte'''
| '''Renal/Electrolyte'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Rheumatology/Immunology/Allergy'''
| '''Rheumatology/Immunology/Allergy'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Sexual'''
| '''Sexual'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Trauma'''
| '''Trauma'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Urologic'''
| '''Urologic'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|-bgcolor="LightSteelBlue"
|- bgcolor="lightsteelblue"
| '''Miscellaneous'''
| '''Miscellaneous'''
|bgcolor="Beige"| No underlying causes
| bgcolor="beige" | No underlying causes
|-
|-
|}
|}


===Causes in Alphabetical Order===
===Causes in Alphabetical Order===
<code>List the causes of the disease in alphabetical order.</code>
{{columns-list|3|
* Cause 1
* Cause 2
* Cause 3
* Cause 4
* Cause 5
* Cause 6
* Cause 7
* Cause 8
* Cause 9
* Cause 10
}}
==Citing Sources==
* References should be cited for the material that you have put on your page. Type in <nowiki>{{Reflist|2}}</nowiki>.This will generate your references in small font, in two columns, with links to the original article and abstract.
* For information on how to add references into your page, click [[Help:Adding References to Articles|here]]


*[[Mutations|Mutation]] in CYPA21 [[gene]]


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
{{WS}}
{{WH}}
[[Category:Disease]]
[[Category:Pediatrics]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
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[[Category:Medicine]]
[[Category: Up-To-Date]]​

Latest revision as of 15:26, 24 July 2020

Congenital adrenal hyperplasia main page

21-hydroxylase deficiency Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Mehrian Jafarizade, M.D [2], Ahmad Al Maradni, M.D. [3]

Overview

21-hydroxylase deficiency is caused by mutations in CYP21A1 and CYP21A2 genes found on chromosome 6. Approximately 70% of CYP21A2 disease is due to gene conversion and microdeletions in CYP21A1 gene; around 25% to 30% are chimeric genes due to large deletions. Less common causes are due to de novo mutations because of high variability of the CYP21A2 locus. Also, chromosome 6 uniparental disomy is rare cause of 21-hydroxylase deficiency with an unknown prevalence.

Causes

Life-Threatening Causes

  • Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of 21-hydroxylase deficiency.

Common causes

Mutations in CYP21A1 and CYP21A2 gene on chromosome 6.

Uncommon causes

Causes by Organ System

No underlying causes
Chemical/Poisoning No underlying causes
Dental No underlying causes
Dermatologic No underlying causes
Drug Side Effect No underlying causes
Ear Nose Throat No underlying causes
Endocrine No underlying causes
Environmental No underlying causes
Gastroenterologic No underlying causes
Genetic Mutations in CYPA21 gene
Hematologic No underlying causes
Iatrogenic No underlying causes
Infectious Disease No underlying causes
Musculoskeletal/Orthopedic No underlying causes
Neurologic No underlying causes
Nutritional/Metabolic No underlying causes
Obstetric/Gynecologic No underlying causes
Oncologic No underlying causes
Ophthalmologic No underlying causes
Overdose/Toxicity No underlying causes
Psychiatric No underlying causes
Pulmonary No underlying causes
Renal/Electrolyte No underlying causes
Rheumatology/Immunology/Allergy No underlying causes
Sexual No underlying causes
Trauma No underlying causes
Urologic No underlying causes
Miscellaneous No underlying causes

Causes in Alphabetical Order

References

  1. ↑ 1.0 1.1 Finkielstain GP, Chen W, Mehta SP, Fujimura FK, Hanna RM, Van Ryzin C, McDonnell NB, Merke DP (2011). "Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". J. Clin. Endocrinol. Metab. 96 (1): E161–72. doi:10.1210/jc.2010-0319. PMC 3038490. PMID 20926536.
  2. ↑ New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T (2013). "Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency". Proc. Natl. Acad. Sci. U.S.A. 110 (7): 2611–6. doi:10.1073/pnas.1300057110. PMC 3574953. PMID 23359698.
  3. ↑ White PC, New MI, Dupont B (1986). "Structure of human steroid 21-hydroxylase genes". Proc. Natl. Acad. Sci. U.S.A. 83 (14): 5111–5. PMC 323900. PMID 3487786.
  4. ↑ Fiet J, Gueux B, Gourmelen M, Kuttenn F, Vexiau P, Couillin P, Pham-Huu-Trung MT, Villette JM, Raux-Demay MC, Galons H (1988). "Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroxyprogesterone values as biological markers of late-onset adrenal hyperplasia". J. Clin. Endocrinol. Metab. 66 (4): 659–67. doi:10.1210/jcem-66-4-659. PMID 2831244.

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