21-hydroxylase deficiency epidemiology and demographics: Difference between revisions
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*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> | ||
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{{Congenital adrenal hyperplasia}} | |||
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==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}} | |||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmad Al Maradni, M.D. [2]
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.[1]
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.[2]
Prevalence
- The prevalence of congenital adrenal hyperplasia due to 21-hydroxylate deficiency ranges between 6.6 to 7.6 per 100,000 individuals.[1]
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]
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Congenital adrenal hyperplasia main page |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [4]
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.[3][4]
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.[5]
References
- ↑ 1.0 1.1 1.2 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.
- ↑ https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency
- ↑ 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 (2010). "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline". J. Clin. Endocrinol. Metab. 95 (9): 4133–60. doi:10.1210/jc.2009-2631. PMC 2936060. PMID 20823466.
- ↑ van der Kamp HJ, Wit JM (2004). "Neonatal screening for congenital adrenal hyperplasia". Eur. J. Endocrinol. 151 Suppl 3: U71–5. PMID 15554889.
- ↑ 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.