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A.临床症状 1.男性化症状 女孩外阴部假两性畸形或者男孩阴茎较正常明显增大。 2.皮肤色素沉着 全身弥漫性色素沉着或外阴部,乳晕的色素沉着明显增多。 3.肾上腺功能不全、失盐症状 厌食、体重不增、频繁呕吐、脱水症状、末梢循环衰竭、意识障碍、休克状态等。 B.检查所见 1.血清17-羟孕酮(17-OHP)增高或尿孕三醇(pregnanetriol)排泄量增加,而且给予糖皮质激素时,其值降低。 2.每日尿17-KS排泄量增加,而且给予糖皮质激素时,其值降低。 3.尿11-deoxy-KGS/11-oxy-KGS比值升高,而且给予糖皮质激素时,其值降低。 C.参考检查所见 1.血浆促肾上腺皮质激素异常升高,给予糖皮质激素后正常。
A. Clinical Symptoms 1. Males Symptoms Female genital hermaphroditism or male penis was significantly higher than normal. 2. Skin pigmentation of the whole body diffuse pigmentation or genital, areola pigmentation increased significantly. 3 adrenal insufficiency, loss of salt symptoms anorexia, weight loss, frequent vomiting, dehydration symptoms, peripheral circulatory failure, disturbance of consciousness, shock status. B. Examination findings 1. Elevated serum 17-hydroxyprogesterone (17-OHP) or increased pregnanetriol excretion and decreased glucocorticoid administration. 2. Daily urinary 17-KS excretion increased, and given glucocorticoid, its value decreased. Urinary 11-deoxy-KGS / 11-oxy-KGS ratio increased, and given glucocorticoid, its value decreased. C. See the reference examination 1. Abnormal plasma adrenocorticotropic hormone, glucocorticoid given normal.