Adrenal steroidogenesis and congenital adrenal hyperplasia.
Adrenal steroidogenesis and congenital adrenal hyperplasia.
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DOI：
10.1016/j.ecl.2015.02.002
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发表时间：
2015-06
影响因子：
4.5
通讯作者：
Auchus RJ
中科院分区：
文献类型：
--
作者：
Turcu AF;Auchus RJ
肾上腺类固醇生成是一个动态过程，依赖于在ACTH和其他调节剂的刺激下从胆固醇重新合成。盐皮质激素、糖皮质激素和肾上腺雄激素的合成发生在不同的肾上腺皮质区，每个区表达特定的酶。先天性肾上腺皮质增生（CAH）是一组皮质醇生物合成酶缺陷的常染色体隐性遗传疾病。21-羟化酶（21 OHD）缺乏症占CAH病例的90%以上，当包括轻度或非经典形式时，21 OHD是最常见的遗传性疾病之一。本文就21 OHD的流行病学、遗传学、诊断、临床和治疗等方面进行了详细的综述。
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, glucocorticoids and adrenal androgens 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 over 90% of CAH cases and when milder or nonclassic forms are included, 21OHD is one of the most common genetic diseases. This review discusses in detail the epidemiology, genetics, diagnostic, clinical aspects and management of 21OHD.