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类固醇21羟化酶缺陷症(21-OHD)引致先天性肾上腺皮质增生症(CAH)属常染色体隐性遗传。典型病例由于21羟化酶缺乏,皮质醇的生物合成发生障碍,垂体前叶失去了负性反馈作用,在过量ACTH的刺激下,肾上腺皮质增生,发生21羟化酶孕酮前质(P)和17羟孕酮(17-OHP)的堆积,进而雄激素生成增加。受累的纯合子在产前和产后出现进行性男性化,同时伴有醛固酮合成障碍并发失盐综合征。患者血浆P和17-OHP增高,尿中17酮类固醇(17KS)和孕三醇排泄增多,应用ACTH后更
Steroid 21 hydroxylase deficiency (21-OHD) causes congenital adrenal hyperplasia (CAH) is autosomal recessive. Typical cases due to 21 hydroxylase deficiency, cortisol biosynthesis disorder, anterior pituitary loss of negative feedback effect, in the excessive ACTH stimulation, adrenal hyperplasia, the occurrence of 21 hydroxylase progesterone progesterone (P) And 17 hydroxyprogesterone (17-OHP) accumulation, and thus increased androgen production. Affected homozygotes show progressive masculine prenatal and postnatal complications accompanied by dysfunctional aldosterone syndrome and salt-deficiency syndrome. Patients with plasma P and 17-OHP increased urinary excretion of 17 ketosteroids (17KS) and pregnancy triols increased after the application of ACTH