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，诊断和管理的最新见解。

先天性肾上腺皮质增生（CAH）是一组影响皮质醇生物合成的常染色体隐性遗传疾病。皮质醇产生所需酶的活性降低导致肾上腺皮质的慢性过度刺激以及在封闭的酶促步骤附近的前体的积累。CAH的最常见形式是由于CYP21A2突变引起的类固醇21-羟化酶缺乏引起的。自2000年最新出版的《内分泌评价中的CAH概述》以来，已经有了许多新的进展。这些措施包括对类固醇生成途径的更详细了解，新生儿筛查的改进，利用色谱法和质谱联用类固醇谱分析的改进的诊断方法以及改进的基因分型方法。替代药物和分娩方式的临床试验最近已经完成或正在进行中。遗传和基于细胞的治疗方法正在探索中。通过建立疾病登记簿，可以增强有关受CAH影响的患者的长期预后的大量数据，包括心理性幸福感。这篇评论为读者提供了先天性肾上腺皮质增生的最新见解，并特别关注了这些新进展。