Egusa G, Mori H, Yamane K, Okamura M, Oda K, Ishida S, Kado S, Hara H, Yamakido M
Second Department of Internal Medicine, Hiroshima University School of Medicine, Japan.
Hiroshima J Med Sci. 1990 Dec;39(4):145-7.
Abnormalities in the steroid 21-hydroxylase and 11 beta-hydroxylase activities were suspected in a 25-year-old female with congenital adrenal hyperplasia (CAH). The patient showed signs of masculinization such as hirsutism, amenorrhea, and enlarged clitoris, but the blood pressure was normal. Adrenocorticotropic was increased to 200 pg/ml. Plasma levels of deoxycorticosterone and 11-deoxycortisol as well as progesterone and 17-hydroxyprogesterone were elevated. Plasma cortisol level was normal at 5.8 micrograms/dl. CT scan revealed enlargement of the bilateral adrenal glands. This case suggests that enzyme abnormalities in CAH are more diverse than have been generally considered.
一名25岁患有先天性肾上腺增生（CAH）的女性被怀疑存在类固醇21-羟化酶和11β-羟化酶活性异常。该患者表现出男性化体征，如多毛、闭经和阴蒂增大，但血压正常。促肾上腺皮质激素升高至200 pg/ml。脱氧皮质酮、11-脱氧皮质醇以及孕酮和17-羟孕酮的血浆水平升高。血浆皮质醇水平正常，为5.8微克/分升。CT扫描显示双侧肾上腺增大。该病例表明，CAH中的酶异常比一般认为的更加多样。
