21-hydroxylase deficiency epidemiology and demographics: Difference between revisions

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{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
{{21-hydroxylase deficiency}}
{{CMG}} {{AE}} {{AAM}}
{{CMG}}; {{AE}} {{MJ}}


==Overview==
==Overview==
The [[prevalence]] of congenital adrenal hyperplasia due to 21-hydroxylate deficiency ranges between 6.6 to 7.6 per 100,000 individuals. The incidence of congenital adrenal hyperplasia due to 21-hydroxlase deficiency is approximately 7.1 per 100,000 births. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency usually affects individuals of the Ashkenazi Jews and Mediterranean race, and 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>
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==
==Epidemiology and Demographics==
===Incidence===
===Incidence===
The incidence of congenital adrenal hyperplasia due to 21-hydroxlase deficiency detectable in childhood is approximately 7.1 in 100,000 births. The severe salt-wasting form accounts for the majority of these cases, which is high enough that many states and countries routinely include it in mandated [[newborn screening]] tests. The incidence of simple [[virilizing]] congenital adrenal hyperplasia is about 1 in 60,000 children.<ref name="Wikipeadia">https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency</ref>
* 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.<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===
The [[prevalence]] of congenital adrenal hyperplasia due to 21-hydroxylate deficiency ranges between 6.6 to 7.6 per 100,000 individuals.<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>
* [[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.<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>
* 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.<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><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>


===Race===
===Race===
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency usually affects individuals of the Ashkenazi Jews and Mediterranean race, and 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>
*21-hydroxylase deficiency usually affects Ashkenazi Jews individuals of the Mediterranean race.
*The Ashkenazi Jews to Mediterranean race ratio is approximately 1:3.<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><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>
 
=== 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:<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><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="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>
* 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==
==References==
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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. ↑ 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. ↑ 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. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.

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