Miller W L
Department of Pediatrics, University of California, San Francisco.
Endocrinol Metab Clin North Am. 1991 Dec;20(4):721-49.
The congenital adrenal hyperplasias (CAH) are a very common group of genetic disorders of steroid hormone synthesis. The genes encoding each of the steroid biosynthetic enzymes have now been cloned, and the mutations in these genes that cause the various forms of CAH are being determined. The emerging picture is substantially different from traditional views of CAH. Examination of the clinical findings in each form of CAH from a molecular genetic perspective simplifies understanding of these complex and closely related syndromes. Because mild forms of CAH are being recognized with increasing frequency, and severely affected patients now survive and reproduce, these disorders are of interest to endocrinologists dealing with all age groups.
先天性肾上腺增生症（CAH）是一组非常常见的类固醇激素合成的遗传性疾病。编码每种类固醇生物合成酶的基因现已被克隆，导致各种形式CAH的这些基因中的突变正在被确定。新出现的情况与CAH的传统观点有很大不同。从分子遗传学角度检查每种形式CAH的临床发现，有助于简化对这些复杂且密切相关综合征的理解。由于轻度形式的CAH被识别的频率越来越高，而且严重受影响的患者现在能够存活并生育，这些疾病引起了处理所有年龄组患者的内分泌学家的关注。
