21-hydroxylase deficiency epidemiology and demographics: Difference between revisions
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]
Overview
Worldwide, the incidence of 21-hydroxylase deficiency, classic type (salt wasting) is 5 per 100,000 persons. Prevalence varies according to ethnicity and geographic area and ranges from a low of 3.57 per 100,000 persons in Chinese population to a high of 357 per 100,000 persons in Yupik Eskimos in Alaska. This disease usually affects Ashkenazi Jews and individuals of the Mediterranean race. The classic type affects approximately 6.25 in 100,000 live births. Non-classic type is one of the most common autosomal recessive disorders in humans and affects approximately 100 in 100,000 individuals, but among inbred populations, such as Eastern European (Ashkenazi) Jews the prevalence may reach up to 1000 per 100,000 individuals. Incidence for 21-hydroxylase deficiency is higher in some ethnic groups, particularly in remote geographic regions such as Alaskan Yupiks.
Epidemiology and Demographics
Incidence
- Worldwide, the incidence of 21-hydroxylase deficiency classic type (salt-wasting) is 5 per 100,000 persons.
- Worldwide, the incidence of 21-hydroxylase deficiency classic simple type (non-salt wasting) 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 of 21- hydroxylase defieciency varies according to ethnicity and geographic area.
- Worldwide, the prevalence of 21 hydroxylase deficiency ranges from a low of 3.57 per 100,000 persons in Chinese population to a high of 357 per 100,000 persons in Yupik Eskimos in Alaska.[2]
- The non-classic form is one of the most common autosomal recessive diseases. The prevalence of the non-classic form may vary from 100 in 100,000 to 1000 in 100,000, with higher prevalence among Mediterraneans, Hispanics, and Eastern European Jews.[1][3]
Race
- 21-hydroxylase deficiency usually affects Ashkenazi Jews individuals of the Mediterranean race.
- The Ashkenazi Jews to Mediterranean race ratio is approximately 1:3.[4][5]
Geographical distribution:
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:[1][2][3]
- Alaska, Yupik Eskimos : 357/100,000
- France, La Reunion: 47.6/100,000
- Sweden: 10.2/100,000
- United States, Wisconsin: 9.1/100,000
- France, Lille: 7.7/100,000
- Japan: 5.6/100,000
- China: 3.6/100,000
- United States, Texas: 6.25/100,000
- Scotland: 5.9/100,000
- Italy: 5.6/100,000
- New Zealand: 4.3/100,000
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.
- ↑ 2.0 2.1 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.