21-hydroxylase deficiency epidemiology and demographics: Difference between revisions

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Revision as of 01:11, 13 July 2017

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]

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.

[pmid3259306-1] 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.

[pmid9556656-2] 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.

[1]

[2]

@@ Line 1: / Line 1: @@
 __NOTOC__
 {{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
-{{CMG}} {{AE}} {{AAM}}
+{{CMG}} {{MJ}}
 ==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>
 ==Epidemiology and Demographics==
 ===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>
+*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===
-*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>
 ===Race===
@@ Line 16: / Line 20: @@
 *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>
-__NOTOC__
-{{Congenital adrenal hyperplasia}}
-{{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}}
-==Overview==
-== Epidemiology and Demographics ==
-The incidence of congenital adrenal hyperplasia ranges from 1:10,000 to 1:20,000 births.
-CAH is more prevalent in some ethnic groups, particularly in remote geographic regions such as Alaskan Yupiks.<ref name="pmid20823466">{{cite journal |vauthors=Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC |title=Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline |journal=J. Clin. Endocrinol. Metab. |volume=95 |issue=9 |pages=4133–60 |year=2010 |pmid=20823466 |pmc=2936060 |doi=10.1210/jc.2009-2631 |url=}}</ref><ref name="pmid15554889">{{cite journal |vauthors=van der Kamp HJ, Wit JM |title=Neonatal screening for congenital adrenal hyperplasia |journal=Eur. J. Endocrinol. |volume=151 Suppl 3 |issue= |pages=U71–5 |year=2004 |pmid=15554889 |doi= |url=}}</ref>
-The classic type affects approximately 1 in 16,000 live births.2
-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>
-==References==
-{{Reflist|2}}
-[[Category:Disease]]
-[[Category:Pediatrics]]
-[[Category:Endocrinology]]
-[[Category:Genetic disorders]]
-[[Category:Intersexuality]]
-{{WikiDoc Help Menu}}
-{{WikiDoc Sources}}
+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>
 ==References==
 {{Reflist|2}}
-{{WikiDoc Help Menu}}
-{{WikiDoc Sources}}
-[[Category:Disease]]
-[[Category:Pediatrics]]
-[[Category:Endocrinology]]
-[[Category:Genetic disorders]]
-[[Category:Intersexuality]]