筛查研究显示，经典型 21-羟化酶缺乏 CAH 的全球发生率为 1/13,000 到 1/54,000 例活产。[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.comNational Newborn Screening Information System (NNSIS)不同人群中的发生率不同，在阿拉斯加 Yupik 爱斯基摩人中为 1/600 例活产，在沙特阿拉伯为 1/5,000 例活产，在新西兰为 1/23,000 例活产。非经典型 21-羟化酶缺乏 CAH 的患病率高出很多，在白种人中为 1/1000，在某些种族中患病率更高 - 特别是阿什肯纳兹犹太人。[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.pdfhttp://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非经典型先天性肾上腺增生症在德系犹太人中发病率为1/27,西班牙裔中为1/40，南斯拉夫人中为1/50,意大利人中为1/300,在纽约多种族人口中，为1/100。[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.pdfhttp://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除此之外，由于21-羟化酶缺乏症，阿拉斯加西南部的爱斯基摩人CAH的患病率更高（1/282）。[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.据报道非经典型CAH女性患者的生育率为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
