A Case of Cogenital Adrenal Hyperplasia with Concomitant Abnormalities of Steroid 21- and 11β-hydroxylase Activities

Abnormalities in the steroid 21-hydroxylase and 11β-hydroxylase activities were suspeted 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-deoxyortisol as well as progesterone and 17-hydroxyprogesterone were elevated. Plasma cortisol level was normal at 5.8 μg/dl. CT scan revealed enlargement of the bilataral adrenal glands.　　　

This case suggests that enzyme abnormalities in CAH are more diverse than have been generally considered.