21-hydroxylase deficiency causes: Difference between revisions
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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 === | ||
*21-hydroxylase deficiency is an autosomal recessive and monogenetic disease.Responsible gene for 21 OH deficiency is CYP21A. This gene is located within the [[Human leukocyte antigen|human leucocyte antigen]] class III region of chromosome 6. CYP21A gene has two types: | *21-hydroxylase deficiency is an autosomal recessive and monogenetic disease. Responsible gene for 21 OH deficiency is CYP21A. This gene is located within the [[Human leukocyte antigen|human leucocyte antigen]] class III region of chromosome 6. CYP21A gene has two types: | ||
*# An active gene called CYP21A2, which encodes 21-hydroxylase, a cytochrome P450 type II enzyme of 495 amino acids. | *# An active gene called CYP21A2, which encodes 21-hydroxylase, a cytochrome P450 type II enzyme of 495 amino acids. | ||
*# The other gene is a non-functional pseudogene named CYP21A1 or CYP21P. | *# The other gene is a non-functional pseudogene named CYP21A1 or CYP21P. | ||
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===Causes by Organ System=== | ===Causes by Organ System=== | ||
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| style="width:75%" bgcolor="beige" ; border="1" | No underlying causes | | style="width:75%" bgcolor="beige" ; border="1" | No underlying causes | ||
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Revision as of 17:27, 12 July 2017
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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
- 21-hydroxylase deficiency is an autosomal recessive and monogenetic disease. Responsible gene for 21 OH deficiency is CYP21A. This gene is located within the human leucocyte antigen class III region of chromosome 6. CYP21A gene has two types:
- An active gene called CYP21A2, which encodes 21-hydroxylase, a cytochrome P450 type II enzyme of 495 amino acids.
- The other gene is a non-functional pseudogene named CYP21A1 or CYP21P.
- Approximately 70% of CYP21A2 disease is due to gene conversion and micro-deletions in CYP21A1 gen.
- Approximately 25% to 30% are chimeric genes due to large deletions.
- 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 rare cause of 21-hydroxylase deficiency with an unknown prevalence.
- Gene mutations that completely inactivate CYP21A2 gene will result in the classical type and salt-wasting subtype.
- Gene mutations that maintain 1–2% of 21-hydroxylase activity will result in classical type and non-saltwasting suntype.[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 | No underlying causes |
| 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
List the causes of the disease in alphabetical order.
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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.