Abstract

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of precursors proximal to the blocked enzymatic step. The most common form of CAH is caused by steroid 21- hydroxylase deficiency due to mutations in CYP21A2. Since the last publication summarizing CAH in Endocrine Reviews in 2000 there have been numerous new developments. These include more detailed understanding of steroidogenic pathways, refinements in neonatal screening, improved diagnostic measurements utilizing chromatography and mass spectrometry coupled with steroid profiling, and improved genotyping methods. Clinical trials of alternative medications and modes of delivery have been recently completed or are under way. Genetic and cell-based treatments are being explored. A large body of data concerning long-term outcomes in patients affected by CAH, including psychosexual well-being, has been enhanced by the establishment of disease registries. This review provides the reader with current insights in congenital adrenal hyperplasia with special attention to these new developments.

中文翻译：

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先天性肾上腺增生——病理生理学、诊断和治疗的最新见解

摘要

先天性肾上腺增生症（CAH）是一组影响皮质醇生物合成的常染色体隐性遗传疾病。皮质醇产生所需的酶活性降低会导致肾上腺皮质的慢性过度刺激以及靠近受阻酶促步骤的前体的积累。最常见的 CAH 是由 CYP21A2 突变导致类固醇 21-羟化酶缺乏引起的。自 2000 年《内分泌评论》上一篇总结 CAH 的文章以来，已有许多新的进展。其中包括对类固醇生成途径的更详细了解、新生儿筛查的改进、利用色谱法和质谱法与类固醇分析相结合改进的诊断测量以及改进的基因分型方法。替代药物和给药方式的临床试验最近已经完成或正在进行中。正在探索基于基因和细胞的治疗方法。疾病登记的建立增强了有关 CAH 患者长期结果（包括性心理健康）的大量数据。这篇综述为读者提供了对先天性肾上腺增生症的最新见解，并特别关注这些新进展。