21-hydroxylase deficiency epidemiology and demographics: Difference between revisions
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==Overview== | ==Overview== | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
===Incidence=== | ===Incidence=== | ||
*For classic salt wasting disease is 1/20,000 | *For classic salt wasting disease is 1/20,000 | ||
*For classic simple or non-salt wasting is 1/60,000 | *For classic simple or non-salt wasting is 1/60,000 | ||
*For late onset type is 1/1000 | *For late onset type is 1/1000 | ||
===Prevalence=== | ===Prevalence=== | ||
===Race=== | ===Race=== | ||
*Congenital adrenal hyperplasia due to 21-hydroxylase deficiency usually affects individuals of the Ashkenazi Jews and Mediterranean 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.<ref name="pmid3259306">{{cite journal| author=Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC et al.| title=Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | journal=Pediatrics | year= 1988 | volume= 81 | issue= 6 | pages= 866-74 | pmid=3259306 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3259306 }} </ref> | *The Ashkenazi Jews to Mediterranean race ratio is approximately 1 to 3.<ref name="pmid3259306">{{cite journal| author=Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC et al.| title=Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. | journal=Pediatrics | year= 1988 | volume= 81 | issue= 6 | pages= 866-74 | pmid=3259306 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3259306 }} </ref> | ||
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> | 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: | === 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: | |||
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 | ||
United States, Wisconsin: 1/11,000 | * United States, Wisconsin: 1/11,000 | ||
France, Lille: 1/13,000 | * France, Lille: 1/13,000 | ||
Japan: 1/18,000 | * Japan: 1/18,000 | ||
United States, Texas: 1/16,000 | * United States, Texas: 1/16,000 | ||
Scotland: 1/17,000 | * Scotland: 1/17,000 | ||
Italy: 1/18,000 | * Italy: 1/18,000 | ||
New Zealand: 1/23,000 | * New Zealand: 1/23,000 | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 01:43, 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:
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:
- 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.