Editorial overview: the adrenal cortex.
Editorial overview: the adrenal cortex.
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编辑概述：肾上腺皮质。
DOI：
10.1097/med.0b013e3283537f0b
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发表时间：
2012
期刊：
影响因子：
--
通讯作者：
Seely,EllenW
中科院分区：
文献类型：
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作者：
Seely,EllenW
我们对肾上腺皮质及其功能的理解不断发展。我们的知识已经扩展到阐明先天性肾上腺增生（CAH）的不同表现，肾上腺皮质疾病的遗传学基础，醛固酮的作用超出了体积调节激素，和肾上腺肿大的偶然放射学发现的鉴别诊断。非经典（也称为迟发性）CAH是一种常见的常染色体隐性疾病，见于通常是不同CYP21基因突变的复合杂合子的个体，21-羟化酶缺乏症。与典型CAH的糖皮质激素或盐皮质激素缺乏特征相反，非典型CAH患者通常表现为雄激素过多。在儿童中，一个常见的表现是过早的阴毛。在青少年和成年女性中，表现包括多毛症、痤疮和月经不规律，而成年男性通常无症状。与此相反，CAH，在经典的形式，导致糖皮质激素和盐皮质激素缺乏和肾上腺雄激素的过度生产与相关的女性婴儿的生殖器模糊。关于成人和儿童经典CAH管理的更新分别在2010年[1]和2011年[2]的肾上腺皮质中提供。
Our understanding of the adrenal cortex and its function continues to evolve. Our knowledge has expanded in the elucidation of different manifestations of congenital adrenal hyperplasia (CAH), the genetics underlying adrenal cortical disorders, in the role of aldosterone beyond a volume regulating hormone, and the differential diagnosis of the incidental radiologic finding of adrenal enlargement.Nonclassical (also termed late onset) CAH is a common autosomal recessive condition seen in individuals who are usually compound heterozygotes for different CYP21 gene mutations resulting in 21-hydroxylase deficiency. As opposed to the glucocorticoid or mineralocorticoid deficiency characteristic of classic CAH, patients with nonclassical CAH typically have manifestations of androgen excess. In children, a common presentation is premature pubarche. In adolescent and adult women, manifestations include hirsutism, acne, and irregular menses, whereas adult men are often asymptomatic. In contrast, CAH, in the classical form, results in glucocorticoid and mineralocorticoid deficiency and overproduction of adrenal androgens with associated ambiguous genitalia in female infants. Updates on the management of classical CAH in adults and in children were provided in the 2010 [1] and 2011 [2] issues of the Adrenal Cortex, respectively.