Classical forms of congenital adrenal hyperplasia are caused by a severe deficiency of 21-hydroxylase, an enzyme involved in steroid biosynthesis, which triggers excessive androgen production ...

概述：21-羟化酶缺乏症（21-hydroxylase deficiency，21-OHD）是先天性肾上腺增生症（congenital adrenal hyperplasia，CAH）中最常见的类型，是由于编码21-羟化酶的CYP21A2基因缺陷导致肾上腺皮质类固醇激素合成障碍的一种先天性疾病，呈常染色体隐性遗传。经典型患者可发生 ...

先天性肾上腺皮质增生症(CAH)作为一组常染色体隐性遗传代谢病，其核心病理机制在于酶活性缺失引发的肾上腺皮质功能衰竭。其中21-羟化酶(21-hydroxylase)缺陷占主导地位，这种酶缺陷不仅导致皮质醇(cortisol)合成障碍，更引发肾上腺源雄激素(adrenal androgens)的异常 ...

Up to 95% of CAH cases involve a 21-hydroxylase deficiency, a key enzyme for normal hormone levels. Most CAH diseases can be classed into two main types: classic CAH and nonclassic (also called ...

Nonclassical congenital adrenal hyperplasia (NCAH ... The most common cause of NCAH is 21-hydroxylase deficiency. This enzyme deficiency happens because of a genetic change you inherit.

Glucocorticoids are essential for the normal development and functioning of the adrenal medulla. Whether adrenomedullary structure and function are normal in patients with congenital adrenal ...

Yes, I do think we need non-glucocorticoid forms of therapy to treat 21-hydroxylase deficiency congenital adrenal hyperplasia. The most common form of congenital adrenal hyperplasia (CAH ...

due to 21-hydroxylase deficiency and data from its modified-release hydrocortisone (MRHC) studies in primary adrenal insufficiency and CAH. These data, along with several additional posters ...

Approximately 95% of CAH cases are caused by a mutation that leads to deficiency of the enzyme 21-hydroxylase. Severe deficiency of this enzyme can lead to an inability of the adrenal glands to ...