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首页> 外文期刊>Gynecological endocrinology: the official journal of the International Society of Gynecological Endocrinology >An update to 21-hydroxylase deficient congenital adrenal hyperplasia.
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An update to 21-hydroxylase deficient congenital adrenal hyperplasia.

机译：更新21-羟化酶缺陷型先天性肾上腺增生。

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摘要

Congenital adrenal hyperplasia (CAH) due to deficiency of the enzyme 21-hydroxylase (21-OH) is distinguished in classical (C-CAH) and non-classical form (NC-CAH), and it is also one of the most common autosomal recessive inherited disorders in humans. The prevalence of C-CAH is between 1:10,000 and 1:15,000 among the live neonates of North America and Europe while the NC-CAH occurs in approximately 0.2% of the general white population. The highest incidence of CAH (1:282 and 1:2141, respectively) has been evaluated in Yupik Eskimos in Alaska and in the populations of the island La Reunion (France), while the lower was detected in New Zealand newborns (0.3%). Nowadays, it has been established that except for the adrenal cortex in CAH cases, the adrenal medulla was also affected. In human 21-OH deficient adrenal gland it has been discovered that not only the chromaffin cells formed extensive neurites, expanding between adrenocortical cells, but also that the adrenal androgens promote outgrowth, whereas glucocorticoids preserve neuroendocrine cells. It seems that normal cortisol secretion by the adrenal cortex is necessary for adrenomedullary organogenesis. The synthesis of 21-OH is controlled by the active CYP21A2 gene located at a distance of 30 kb from a highly homologous pseudogene designated CYP21A1P.
机译：由于缺乏21-羟化酶（21-OH）而导致的先天性肾上腺增生（CAH）以经典（C-CAH）和非经典形式（NC-CAH）区分，它也是最常见的常染色体之一人类的隐性遗传性疾病。在北美和欧洲的活新生儿中，C-CAH的患病率在1：10,000至1：15,000之间，而NC-CAH的患病率约为普通白人的0.2％。在阿拉斯加的尤皮克爱斯基摩人和拉留尼汪岛（法国）的人群中，CAH的发病率最高（分别为1：282和1：2141），而在新西兰新生儿中发现的发生率最低（0.3％） 。如今，已经确定除了CAH病例的肾上腺皮质外，肾上腺髓质也受到影响。在人类缺乏21-OH的肾上腺中，不仅发现嗜铬细胞形成了广泛的神经突，在肾上腺皮质细胞之间膨胀，而且肾上腺雄激素也促进了细胞的生长，而糖皮质激素则保护了神经内分泌细胞。肾上腺皮质的正常皮质醇分泌对于肾上腺髓质器官发生是必要的。 21-OH的合成受活性CYP21A2基因控制，该基因与高度同源的假基因CYP21A1P距离30 kb。

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