Kalaitzoglou G, New M I
Department of Pediatrics, New York Hospital-Cornell Medical Center, NY 10021.
Receptor. 1993 Fall;3(3):211-22.
Congenital adrenal hyperplasia (CAH) results from enzymatic blocks in the synthesis of cortisol. All enzyme defects causing CAH are autosomal recessive traits. It is a relatively common disease, occurring in 1 in 5000 to 1 in 15,000 births in most populations. Since the isolation of the gene responsible for steroid 21-hydroxylase deficiency (involved in about 90% of the cases of CAH) in 1984, knowledge of the specific mutations that cause the different forms of CAH has grown rapidly. Mutations in the encoding gene have been confirmed as the basis of endocrine disease in the case of all of the adrenal steroidogenic enzymes required for synthesis of cortisol but one (cholesterol desmolase). The clinical expression of endocrine disease is not always correlated with the mutations of the primary structural gene. Clinicians cannot accurately predict the course of the disease or make therapeutic decisions based on the genotype alone. We will review the various forms of clinical presentation of CAH, their etiology, diagnosis, molecular genetics, and treatment.
先天性肾上腺皮质增生症（CAH）是由皮质醇合成过程中的酶缺陷引起的。所有导致CAH的酶缺陷都是常染色体隐性性状。这是一种相对常见的疾病，在大多数人群中，发病率为每5000至15000例出生中就有1例。自1984年负责类固醇21 - 羟化酶缺乏症（约90%的CAH病例与之相关）的基因被分离出来后，对于导致不同形式CAH的特定突变的认识迅速增加。除一种（胆固醇裂解酶）外，在皮质醇合成所需的所有肾上腺类固醇生成酶的情况下，编码基因中的突变已被确认为内分泌疾病的基础。内分泌疾病的临床表型并不总是与初级结构基因的突变相关。临床医生不能仅根据基因型准确预测疾病进程或做出治疗决策。我们将综述CAH的各种临床呈现形式、病因、诊断、分子遗传学及治疗方法。
