Section on Endocrinology and Genetics, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, CRC, Room 1-2740, 10 Center Drive, MSC 1932, Bethesda, MD 20892-1932, USA.
Clinical DNA Testing and DNA Banking, PreventionGenetics, 3800 South Business Park Avenue, Marshfield, WI 54449, USA.
Endocrinol Metab Clin North Am. 2017 Jun;46(2):435-458. doi: 10.1016/j.ecl.2017.01.008. Epub 2017 Mar 1.
Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders due to single-gene defects in the various enzymes required for cortisol biosynthesis. CAH represents a continuous phenotypic spectrum with more than 95% of all cases caused by 21-hydroxylase deficiency. Genotyping is an important tool in confirming the diagnosis or carrier state, provides prognostic information on disease severity, and is essential for genetic counseling. In this article, the authors provide an in-depth discussion on the genetics of CAH, including genetic diagnosis, molecular analysis, genotype-phenotype relationships, and counseling of patients and their families.
先天性肾上腺皮质增生症（CAH）是一组常染色体隐性遗传疾病，由皮质醇生物合成所需的各种酶的单个基因缺陷引起。CAH 代表了一个连续的表型谱，超过 95%的病例是由于 21-羟化酶缺乏引起的。基因分型是确认诊断或携带者状态的重要工具，提供疾病严重程度的预后信息，对遗传咨询至关重要。本文作者深入讨论了 CAH 的遗传学，包括遗传诊断、分子分析、基因型-表型关系，以及患者及其家属的咨询。
