21-hydroxylase deficiency epidemiology and demographics: Difference between revisions
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==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
===Incidence=== | ===Incidence=== | ||
* | * Worldwide, the incidence of 21-hydroxilase deficiency classic salt wasting type is 5 per 100,000 persons. | ||
* | * Worldwide, the incidence of 21-hydroxilase deficiency classic simple or non-salt wasting type is 16.6 per 100,000 persons. | ||
* | * Worldwide, the incidence of 21-hydroxilase deficiency late onset type type is 100 per 100,000 persons.<ref name="pmid10857554">{{cite journal |vauthors=White PC, Speiser PW |title=Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=Endocr. Rev. |volume=21 |issue=3 |pages=245–91 |year=2000 |pmid=10857554 |doi=10.1210/edrv.21.3.0398 |url=}}</ref> | ||
===Prevalence=== | ===Prevalence=== | ||
* Prevalence varies according to ethnicity and geographic area. | |||
* Worldwide, the prevalence of congenital adrenal hyperplasia due to 21 hydroxylase deficiency ranges from a low of 3.57 per 100,000 persons in Chinese population<ref name="pmid10690861">{{cite journal |vauthors=Lee HH, Kuo JM, Chao HT, Lee YJ, Chang JG, Tsai CH, Chung BC |title=Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese |journal=J. Clin. Endocrinol. Metab. |volume=85 |issue=2 |pages=597–600 |year=2000 |pmid=10690861 |doi=10.1210/jcem.85.2.6367 |url=}}</ref> to a high of per 100,000 persons with an average prevalence of 357 per 100,000 persons in Yupik Eskimos in Alaska.<ref name="pmid7096533">{{cite journal |vauthors=Pang S, Murphey W, Levine LS, Spence DA, Leon A, LaFranchi S, Surve AS, New MI |title=A pilot newborn screening for congenital adrenal hyperplasia in Alaska |journal=J. Clin. Endocrinol. Metab. |volume=55 |issue=3 |pages=413–20 |year=1982 |pmid=7096533 |doi=10.1210/jcem-55-3-413 |url=}}</ref><ref name="pmid10857554">{{cite journal |vauthors=White PC, Speiser PW |title=Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=Endocr. Rev. |volume=21 |issue=3 |pages=245–91 |year=2000 |pmid=10857554 |doi=10.1210/edrv.21.3.0398 |url=}}</ref> | |||
===Race=== | ===Race=== | ||
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=== Incidence for each region: === | === Incidence for each region: === | ||
21-hydroxylase deficiency is more prevalent in some ethnic groups, particularly in remote geographic regions (''e.g.'' Alaskan Yupiks). Disease incidence for each region mentioned below: | 21-hydroxylase deficiency is more prevalent in some ethnic groups, particularly in remote geographic regions (''e.g.'' Alaskan Yupiks). Disease incidence for each region mentioned below:<ref name="pmid7096533">{{cite journal |vauthors=Pang S, Murphey W, Levine LS, Spence DA, Leon A, LaFranchi S, Surve AS, New MI |title=A pilot newborn screening for congenital adrenal hyperplasia in Alaska |journal=J. Clin. Endocrinol. Metab. |volume=55 |issue=3 |pages=413–20 |year=1982 |pmid=7096533 |doi=10.1210/jcem-55-3-413 |url=}}</ref>ref name="pmid10690861">{{cite journal |vauthors=Lee HH, Kuo JM, Chao HT, Lee YJ, Chang JG, Tsai CH, Chung BC |title=Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese |journal=J. Clin. Endocrinol. Metab. |volume=85 |issue=2 |pages=597–600 |year=2000 |pmid=10690861 |doi=10.1210/jcem.85.2.6367 |url=}}</ref><ref name="pmid10857554">{{cite journal |vauthors=White PC, Speiser PW |title=Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=Endocr. Rev. |volume=21 |issue=3 |pages=245–91 |year=2000 |pmid=10857554 |doi=10.1210/edrv.21.3.0398 |url=}}</ref> | ||
* Alaska, Yupik Eskimos : 1/280 | * Alaska, Yupik Eskimos : 1/280 | ||
* France, La Reunion: 1/2,100 | * France, La Reunion: 1/2,100 | ||
* Sweden: 1/9,800 | * Sweden: 1/9,800 | ||
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* France, Lille: 1/13,000 | * France, Lille: 1/13,000 | ||
* Japan: 1/18,000 | * Japan: 1/18,000 | ||
* China: 1/28000 | |||
* United States, Texas: 1/16,000 | * United States, Texas: 1/16,000 | ||
* Scotland: 1/17,000 | * Scotland: 1/17,000 | ||
Revision as of 14:10, 13 July 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Mehrian Jafarizade, M.D [2]
Overview
Epidemiology and Demographics
Incidence
- Worldwide, the incidence of 21-hydroxilase deficiency classic salt wasting type is 5 per 100,000 persons.
- Worldwide, the incidence of 21-hydroxilase deficiency classic simple or non-salt wasting type is 16.6 per 100,000 persons.
- Worldwide, the incidence of 21-hydroxilase deficiency late onset type type is 100 per 100,000 persons.[1]
Prevalence
- Prevalence varies according to ethnicity and geographic area.
- Worldwide, the prevalence of congenital adrenal hyperplasia due to 21 hydroxylase deficiency ranges from a low of 3.57 per 100,000 persons in Chinese population[2] to a high of per 100,000 persons with an average prevalence of 357 per 100,000 persons in Yupik Eskimos in Alaska.[3][1]
Race
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency usually affects individuals of the Ashkenazi Jews and Mediterranean race.
- The Ashkenazi Jews to Mediterranean race ratio is approximately 1 to 3.[4]
The classic type affects approximately 1 in 16,000 live births. NCCAH is one of the most common autosomal recessive disorders in humans and affects approximately 1 in 1000 individuals, but in up to 1–2% among inbred populations, such as Eastern European (Ashkenazi) Jews.[5]
Incidence for each region:
21-hydroxylase deficiency is more prevalent in some ethnic groups, particularly in remote geographic regions (e.g. Alaskan Yupiks). Disease incidence for each region mentioned below:[3]ref name="pmid10690861">Lee HH, Kuo JM, Chao HT, Lee YJ, Chang JG, Tsai CH, Chung BC (2000). "Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese". J. Clin. Endocrinol. Metab. 85 (2): 597–600. doi:10.1210/jcem.85.2.6367. PMID 10690861.</ref>[1]
- Alaska, Yupik Eskimos : 1/280
- France, La Reunion: 1/2,100
- Sweden: 1/9,800
- United States, Wisconsin: 1/11,000
- France, Lille: 1/13,000
- Japan: 1/18,000
- China: 1/28000
- United States, Texas: 1/16,000
- Scotland: 1/17,000
- Italy: 1/18,000
- New Zealand: 1/23,000
References
- ↑ 1.0 1.1 1.2 White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.
- ↑ Lee HH, Kuo JM, Chao HT, Lee YJ, Chang JG, Tsai CH, Chung BC (2000). "Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese". J. Clin. Endocrinol. Metab. 85 (2): 597–600. doi:10.1210/jcem.85.2.6367. PMID 10690861.
- ↑ 3.0 3.1 Pang S, Murphey W, Levine LS, Spence DA, Leon A, LaFranchi S, Surve AS, New MI (1982). "A pilot newborn screening for congenital adrenal hyperplasia in Alaska". J. Clin. Endocrinol. Metab. 55 (3): 413–20. doi:10.1210/jcem-55-3-413. PMID 7096533.
- ↑ Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC; et al. (1988). "Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Pediatrics. 81 (6): 866–74. PMID 3259306.
- ↑ Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI (1985). "High frequency of nonclassical steroid 21-hydroxylase deficiency". Am. J. Hum. Genet. 37 (4): 650–67. PMC 1684620. PMID 9556656.