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本文报道11例先天性肾上腺皮质增生症(女性6例,男性5例)。其中10例属21-羟化酶缺乏,1例属11β-羟化酶缺乏。临床有女性男性化,男性性早熟及尿17-羟类固醇(17-OH),17-酮类固醇(17-KS)、血生化异常等表现。现将综合资料典型病例报道如下。
This article reports 11 cases of congenital adrenal hyperplasia (6 females, 5 males). Among them, 10 cases were 21-hydroxylase deficiency and 1 case was 11β-hydroxylase deficiency. Clinical male masculine, precocious men and urinary 17-hydroxysteroid (17-OH), 17-ketosteroid (17-KS), abnormal blood biochemical performance. A comprehensive case of typical cases are reported below.