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90%以上的CAH由21羟化酶缺陷引起,其血浆17-羟孕酮(17-OHP)浓度升高。1977年首先报告在滤纸血斑上测定17-OHP 的方法。本文报匈道牙利8年期间(1978年～1986年)用此法筛查707例高危 CAH病人,据此也提供了匈牙利CAH的发病率。
More than 90% of CAH is caused by a 21-hydroxylase deficiency with elevated plasma 17-hydroxyprogesterone (17-OHP) concentrations. In 1977 first reported on the filter paper blood spots on the 17-OHP method. This article reports that during the eight-year period of Hungary (1978-1986), 707 high-risk CAH patients were screened by this method, which also provided the incidence of Hungarian CAH.