White P C
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Endocrinol Metab Clin North Am. 2001 Mar;30(1):61-79, vi. doi: 10.1016/s0889-8529(08)70019-7.
Three disorders result from mutations involving two closely linked 11 beta-hydroxylase genes. Steroid 11 beta-hydroxylase deficiency results from mutations in CYP11B1. This is a form of congenital adrenal hyperplasia (CAH) characterized by hypertension and signs of androgen excess. Mutations in CYP11B2 cause aldosterone synthase deficiency, an isolated defect of aldosterone biosynthesis. Recombinations between these two genes cause glucocorticoid suppressible hyperaldosteronism, an autosomal dominant form of hypertension.
三种疾病是由涉及两个紧密连锁的11β-羟化酶基因的突变引起的。类固醇11β-羟化酶缺乏症是由CYP11B1基因突变引起的。这是一种先天性肾上腺皮质增生症（CAH），其特征为高血压和雄激素过多的体征。CYP11B2基因突变导致醛固酮合酶缺乏，这是一种醛固酮生物合成的孤立缺陷。这两个基因之间的重组导致糖皮质激素可抑制性醛固酮增多症，这是一种常染色体显性遗传形式的高血压。
