White P C, Speiser P W
Division of Pediatric Endocrinology, Cornell University Medical College, New York.
Endocrinol Metab Clin North Am. 1994 Jun;23(2):325-39.
Steroid 11 beta-hydroxylase deficiency is the second most frequent cause of congenital adrenal hyperplasia, the inherited inability to synthesize cortisol. About two thirds of patients with this disorder have hypertension, presumably due to elevated levels of deoxycorticosterone or other metabolites. Signs of androgen excess also often are prominent. This disease is caused by mutations in the CYP11B1 gene, which encodes a mitochondrial cytochrome P450 enzyme. The main treatment is glucocorticoid replacement, which suppresses excessive secretion of mineralocorticoids and androgens by the adrenal cortex.
类固醇11β-羟化酶缺乏症是先天性肾上腺皮质增生症的第二常见病因，即遗传性无法合成皮质醇。约三分之二的该疾病患者患有高血压，可能是由于脱氧皮质酮或其他代谢产物水平升高所致。雄激素过多的体征通常也很明显。这种疾病是由CYP11B1基因突变引起的，该基因编码一种线粒体细胞色素P450酶。主要治疗方法是糖皮质激素替代疗法，它可抑制肾上腺皮质过量分泌盐皮质激素和雄激素。
