Zachmann M, Tassinari D, Prader A
J Clin Endocrinol Metab. 1983 Feb;56(2):222-9. doi: 10.1210/jcem-56-2-222.
Twenty five patients (10 males and 15 females) aged 0-23 yr with congenital adrenal hyperplasis due to 11 beta-hydroxylase deficiency were studied. They were divided into 13 classic (group A), and 12 mild (group B) patients. The patients of group A were diagnosed at a younger age and had more severe clinical symptoms (ambiguous genitalia in girls, pseudoprecocious puberty in boys). Two had neonatal salt wasting before treatment, and one gynecomastia. Seven had moderate to severe hypertension. Their mean 3 alpha,17,21-trihydroxy-5 beta-pregnan-20-one (THS) and 3 alpha, 21-dihydroxy-5 beta-pregnane-11,20-dione (THDOC) excretion was 14.2 +/- 4.1 and 7.2 +/- 4.2 mg/m2 . day, respectively. The patients of group B had mostly late onset of symptoms (hirsutism, amenorrhea in girls, pseudoprecocious puberty in boys, tall stature, and advanced bone age in both sexes). One boy had bilateral cryptorchidism. Four had moderate hypertension. In seven patients, THS (5.3 +/- 2.3 mg/m2 . day) and THDOC (3.9 +/- 0.5 mg/m2 . day) responded to ACTH. In five, only THS (4.3 +/- 1.1 mg/m2 . day) responded, but THDOC remained undetectable. It is concluded that the clinical and biochemical expression of 11 beta-hydroxylase deficiency is variable, that hypertension in not directly related to deoxycorticosterone, and that, regardless of the intensity of the defect, there are patients in whom the 11 beta-hydroxylation of 17 alpha-hydroxylated steroids only is impaired, and others in whom both the conversion of 17,20-dihydroxy-4-pregnene-3,20-dione and deoxycorticosterone are reduced.
对25例年龄在0至23岁、因11β-羟化酶缺乏导致先天性肾上腺皮质增生的患者（10例男性和15例女性）进行了研究。他们被分为13例典型患者（A组）和12例轻症患者（B组）。A组患者诊断时年龄较小，临床症状更严重（女孩为两性生殖器畸形，男孩为假性性早熟）。2例在治疗前有新生儿失盐，1例有男性乳腺增生。7例有中度至重度高血压。他们的平均3α,17,21-三羟基-5β-孕烷-20-酮（THS）和3α,二十一碳二烯醇-5β-孕烷-11,20-二酮（THDOC）排泄量分别为14.2±4.1和7.2±4.2mg/m²·天。B组患者大多症状出现较晚（女孩多毛、闭经，男孩假性性早熟，身材高大，两性骨龄提前）。1例男孩有双侧隐睾。4例有中度高血压。7例患者中，THS（5.3±2.3mg/m²·天）和THDOC（3.9±0.5mg/m²·天）对促肾上腺皮质激素有反应。5例中，只有THS（4.3±1.1mg/m²·天）有反应，但THDOC仍检测不到。结论是，11β-羟化酶缺乏的临床和生化表现是可变的，高血压与脱氧皮质酮无直接关系，且无论缺陷的严重程度如何，有些患者仅17α-羟化类固醇的11β-羟化受损，而另一些患者17,20-二羟基-4-孕烯-3,20-二酮和脱氧皮质酮的转化均减少。
