Department of Pediatric Endocrinology, Radboud University Medical Centre, Amalia Childrens Hospital, Nijmegen, The Netherlands.
Cohen Children's Medical Center of NY, Feinstein Institute, Northwell Health, Zucker School of Medicine, New Hyde Park, NY 11040, USA.
Endocr Rev. 2022 Jan 12;43(1):91-159. doi: 10.1210/endrev/bnab016.
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 CAH with special attention to these new developments.
先天性肾上腺皮质增生症（CAH）是一组影响皮质醇生物合成的常染色体隐性遗传病。产生皮质醇所需的酶活性降低会导致肾上腺皮质的慢性过度刺激和在受阻酶步骤之前的前体物质的积累。最常见的 CAH 形式是由于 CYP21A2 基因突变导致的类固醇 21-羟化酶缺乏引起的。自 2000 年在《内分泌学评论》上总结 CAH 以来，已经有了许多新的发展。这些进展包括对甾体生物合成途径的更详细了解，新生儿筛查的细化，利用色谱和质谱联用法结合类固醇谱分析进行改进的诊断测量，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已经完成或正在进行中。正在探索基因和基于细胞的治疗方法。通过建立疾病登记处，大量关于受 CAH 影响的患者的长期结局的数据，包括性心理健康，得到了增强。这篇综述为读者提供了 CAH 的最新见解，特别关注这些新的发展。
