Screening studies indicate a worldwide incidence of classical 21-hydroxylase-deficient CAH as 1 in 13,000 to 1 in 54,000 live births.[2]Pang SY, Wallace MA, Hofman L, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics. 1988;81:866-874.
http://www.ncbi.nlm.nih.gov/pubmed/3259306?tool=bestpractice.com
National Newborn Screening Information System (NNSIS)
external link opens in a new window Incidences vary among different populations, ranging from 1 in 600 live births in Yupik Eskimos of Alaska, to 1 in 5000 live births in Saudi Arabia, to 1 in 23,000 live births in New Zealand. The prevalence frequency of non-classical 21-hydroxylase-deficient CAH is considerably higher, at 1 in 1000, in white populations, with an even higher frequency among selected ethnic groups - most notably, Ashkenazi Jews.[3]Speiser PW, Dupont B, Rubinstein P, et al. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet. 1985;37:650-667.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684620/pdf/ajhg00159-0036.pdf
http://www.ncbi.nlm.nih.gov/pubmed/9556656?tool=bestpractice.com
[4]Sherman SL, Aston CE, Morton NE, et al. A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency. Am J Hum Genet. 1988:42:830-838.
http://www.ncbi.nlm.nih.gov/pubmed/3259403?tool=bestpractice.com
Prevalence of non-classical CAH is 1 in 27 Ashkenazi Jews, 1 in 40 Hispanics, 1 in 50 Yugoslavs, 1 in 300 Italians, and 1 in 100 in a heterogeneous New York population.[3]Speiser PW, Dupont B, Rubinstein P, et al. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet. 1985;37:650-667.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684620/pdf/ajhg00159-0036.pdf
http://www.ncbi.nlm.nih.gov/pubmed/9556656?tool=bestpractice.com
[4]Sherman SL, Aston CE, Morton NE, et al. A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency. Am J Hum Genet. 1988:42:830-838.
http://www.ncbi.nlm.nih.gov/pubmed/3259403?tool=bestpractice.com
Additionally, there is a high frequency of CAH due to 21-hydroxylase deficiency among Yupik Eskimos of southwestern Alaska (1 in 282).[5]Speiser PW, New MI. Hormonal hypertension in childhood. In: Lavin N, ed. Manual of endocrinology and metabolism. Boston, MA: Little, Brown and Co; 1994:161-173. The fertility rate among untreated females with non-classical CAH is reported to be 50%.[6]Pang S. Congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 1997;26:853-891.
http://www.ncbi.nlm.nih.gov/pubmed/9429863?tool=bestpractice.com
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