Turcu Adina F, Auchus Richard J
Division of Metabolism, Endocrinology, & Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.
Division of Metabolism, Endocrinology, & Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA; Department of Pharmacology, University of Michigan, Room 5560A MSRBII, 1150 West Medical Center Drive, Ann Arbor, MI 48109, USA.
Endocrinol Metab Clin North Am. 2015 Jun;44(2):275-96. doi: 10.1016/j.ecl.2015.02.002.
Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids (primarily aldosterone), glucocorticoids (primarily cortisol), and adrenal androgens (primarily dehydroepiandrosterone and its sulfate) occur in separate adrenal cortical zones, each expressing specific enzymes. Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal-recessive enzymatic defects in cortisol biosynthesis. 21-Hydroxylase (21OHD) deficiency accounts for more than 90% of CAH cases and, when milder or nonclassic forms are included, 21OHD is one of the most common genetic diseases.
肾上腺类固醇生成是一个动态过程，在促肾上腺皮质激素（ACTH）和其他调节因子的刺激下，依赖于从胆固醇的从头合成。盐皮质激素（主要是醛固酮）、糖皮质激素（主要是皮质醇）和肾上腺雄激素（主要是脱氢表雄酮及其硫酸盐）的合成发生在肾上腺皮质的不同区域，每个区域表达特定的酶。先天性肾上腺增生症（CAH）包括一组皮质醇生物合成中的常染色体隐性酶缺陷。21-羟化酶（21OHD）缺乏症占CAH病例的90%以上，若包括较轻或非典型形式，21OHD是最常见的遗传病之一。
