21-hydroxylase deficiency causes: Difference between revisions
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{{21-hydroxylase deficiency}} | {{21-hydroxylase deficiency}} | ||
{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}} | {{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}, {{AAM}} | ||
==Overview== | ==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== | ==Causes== | ||
===Life-Threatening 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. | * 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 === | === Common causes === | ||
Mutations in [[CYP21A1]] and [[CYP21A2]] gene on [[Chromosome 6|chromosome 6.]] | [[Mutations]] in [[CYP21A1]] and [[CYP21A2]] [[gene]] on [[Chromosome 6|chromosome 6.]] | ||
* Approximately 70% of [[CYP21A2]] | * Approximately 70% of disease associated with [[CYP21A2]] is due to [[gene conversion]] and [[Microdeletion|microdeletions]] in [[CYP21A1]] [[gene]]. | ||
* Approximately 25% to 30% are chimeric genes due to large deletions. | * Approximately 25% to 30% are [[Chimera (genetics)|chimeric]] [[genes]] due to large [[Deletion (genetics)|deletions]]. | ||
=== Uncommon causes === | === Uncommon causes === | ||
* Approximately 1% to 2% of cases are due to [[De novo mutation|de novo mutations]] because of high variability of the [[CYP21A2]] [[locus]]. | * Approximately 1% to 2% of cases are due to [[De novo mutation|de novo mutations]] because of high variability of the [[CYP21A2]] [[locus]]. | ||
* [[Chromosome 6]] [[uniparental disomy]] is 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> | * [[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=== | ||
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| '''Genetic''' | | '''Genetic''' | ||
| bgcolor="beige" | [[Mutations| | | bgcolor="beige" | [[Mutations|Mutations]] in CYPA21 [[gene]] | ||
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===Causes in Alphabetical Order=== | ===Causes in Alphabetical Order=== | ||
* [[Mutations|Mutation]] in CYPA21 [[gene]] | *[[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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Latest revision as of 15:26, 24 July 2020
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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.
- Approximately 70% of disease associated with CYP21A2 is due to gene conversion and microdeletions in CYP21A1 gene.
- Approximately 25% to 30% are chimeric genes due to large deletions.
Uncommon causes
- Approximately 1% to 2% of cases are due to de novo mutations because of high variability of the CYP21A2 locus.
- Chromosome 6 uniparental disomy is a rare cause of 21-hydroxylase deficiency with an unknown prevalence.[1][2][1][3][4]
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
- ↑ 1.0 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.