第六章先天性肾上腺皮质增生症【概述】先天性肾上腺皮质增生症（congenitaladrenalhyperplasia，CAH）是一组常染色体隐性遗传性疾病，因类固醇激素合成过程中某种酶的先天性缺陷，导致肾上腺皮质合成的皮质醇完全或部分受阻，皮质醇缺乏，对下丘脑-垂体的负反馈作用消除，促使下丘脑-垂体分泌的促肾上腺皮质激素释放激素（corticotrophic-relieasinghormone，CRH）和促肾上腺皮质激素（adrenocorticotrophichormone，ACTH）分泌增加，导致肾上腺皮质增生，有些酶的缺乏同时可导致盐皮质激素和性激素合成障碍。
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