21-hydroxylase deficiency epidemiology and demographics: Difference between revisions
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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.<ref name="pmid9556656">{{cite journal |vauthors=Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI |title=High frequency of nonclassical steroid 21-hydroxylase deficiency |journal=Am. J. Hum. Genet. |volume=37 |issue=4 |pages=650–67 |year=1985 |pmid=9556656 |pmc=1684620 |doi= |url=}}</ref> | |||
Incidence for each region: | |||
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 | |||
United States, Texas: 1/16,000 | |||
Scotland: 1/17,000 | |||
Italy: 1/18,000 | |||
New Zealand: 1/23,000 | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 01:20, 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
- For classic salt wasting disease is 1/20,000
- For classic simple or non-salt wasting is 1/60,000
- For late onset type is 1/1000
Prevalence
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.[1]
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.[2]
Incidence for each region:
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 United States, Texas: 1/16,000 Scotland: 1/17,000 Italy: 1/18,000 New Zealand: 1/23,000
References
- ↑ 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.