先天性肾上腺增生(Congenital Adrenal Hyperplasia简写CAH)为常染色体隐性遗传性疾病,是因肾上腺皮质将胆固醇转变为肾上腺皮质激素过程中所需要的酶先天缺陷所致。临床表现为外生殖器异常、失盐、男性化和罕见的高血压等改变。严重的特异性的酶缺陷常常发生在同一家族中,经适当的治疗最终身 Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disease caused by a congenital deficiency of enzymes required for the adrenal cortex to convert cholesterol into adrenocorticotropic hormones. Clinical manifestations of genital abnormalities, loss of salt, masculine and rare high blood pressure and other changes. Severe and specific enzyme defects often occur in the same family, the proper treatment of the final body