Wilson C M, Griffin J E, Wilson J D, Marcelli M, Zoppi S, McPhaul M J
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas 75235-8857.
J Clin Endocrinol Metab. 1992 Dec;75(6):1474-8. doi: 10.1210/jcem.75.6.1464650.
Individuals with androgen resistance encompass a spectrum of phenotypic abnormalities ranging from complete testicular feminization to undervirilized men. Such subjects have been classified according to the hormone-binding characteristics in genital skin fibroblasts and on the basis of the mutation in the androgen receptor (AR) gene. Antibodies to the amino-terminal region of the human AR were used to develop an immunoblot assay for the comparison of androgen binding with the amount of AR expressed in genital skin fibroblasts. In controls and 4 androgen-resistant subjects with DNA-binding domain mutations, levels of immunoreactive AR correlated closely with androgen-binding capacity. In 15 androgen-resistant subjects with qualitatively abnormal AR, immunoreactive AR levels tended to be higher than predicted from the ligand-binding capacity. Discordance between immunoreactivity and androgen binding also occurred in fibroblasts from 3 other subjects. One carries a stop codon in the AR gene and produces a truncated AR that is immunoreactive but does not bind androgen. Two carry single point mutations in the hormone-binding domain and produce immunoreactive AR that is normal in size but does not bind androgen.
雄激素抵抗个体表现出一系列表型异常，从完全性睾丸女性化到男性化不足。这些受试者已根据生殖器皮肤成纤维细胞中的激素结合特性以及雄激素受体（AR）基因突变进行了分类。使用针对人AR氨基末端区域的抗体开发了一种免疫印迹测定法，用于比较雄激素结合与生殖器皮肤成纤维细胞中AR表达量。在对照组和4名具有DNA结合域突变的雄激素抵抗受试者中，免疫反应性AR水平与雄激素结合能力密切相关。在15名具有定性异常AR的雄激素抵抗受试者中，免疫反应性AR水平往往高于根据配体结合能力预测的水平。在另外3名受试者的成纤维细胞中也出现了免疫反应性与雄激素结合之间的不一致。一名受试者在AR基因中携带一个终止密码子，并产生一种截短的AR，该AR具有免疫反应性但不结合雄激素。另外两名受试者在激素结合域中携带单点突变，并产生大小正常但不结合雄激素的免疫反应性AR。
