5α- 还原酶活性及雄激素受体分析的临床应用  

APPLICATION OF METHODS FOR ASSAY OF 5α REDUCTASE ACTIVITIES AND ANDROGEN RECEPTOR IN CLINICAL PRACTICE

作　　者：崔毓桂[1,2,3,4] 张桂元[1,2,3,4] 田秦杰 何方方[1,2,3,4] 葛秦生 曾正陪[1,2,3,4] 史轶蘩 薛兆英[1,2,3,4] 

机构地区：[1]南京医科大学第一附属医院内分泌科 [2]国家计划生育委员会科学技术研究所 [3]北京协和医院 [4]北京医科大学泌尿外科研究所

出　　处：《中华内分泌代谢杂志》1997年第1期15-19,共5页Chinese Journal of Endocrinology and Metabolism

摘　　要：将已建立的男性会阴部皮肤组织５α还原酶活性分析及改良的雄激素受体配基结合容量测定的方法应用于男性性分化异常病的临床实践。从病因学上诊断了２例５α还原酶缺乏症和３例对雄激素不敏感综合征（ＡＩＳ）。说明５α还原酶活性分析和雄激素受体（ＡＲ）配基结合容量测定对于性分化异常病的发病机理和病理生理的研究、临床诊断和指导治疗具有重要意义，也验证了方法学的可靠性和实用价值。Androgen receptor and 5α reductase play crucial roles in androgen action and metabolism. Their defect would cause the clinical male pseudohermaphroditism, defined as androgen insensitive syndrome and 5α reductase deficiency, respectively. We developed the methods for characterising the 5α reductase isozyme I and II, and for measuring ligand binding capacity of the androgen receptor in the genital skins of 40 normal men and 6 patients with male pseudohermaphroditism. Comparing with normal men of the same age ranges, 2 patients had much lower activities of 5α reductase isozyme II (2.6 and 0 DHT pmol/mg protein/30 min, respectively), but normal ligand binding capacity of androgen receptor. So they might be diagnosed as 5α reductase deficiency. Their diagnosis was further confirmed by the assay of 5α reductase activity dependent pH value of reaction system. In 3 patients with complete androgen insensitive syndrome, both cytosol and nuclear androgen receptor were defected and nuclear androgen receptor was only 7.27～15.74 fmol/mg protein and decreased 11.72～25.36 folds, although their 5α reductase was normal. So we suggest that 5α reductase activities and androgen receptor should be assayed in diagnosis and differential diagnosis of male pseudohermaphroditism.

关 键 词：5Α-还原酶 雄激素 性分化异常病 

分 类 号：R588.02[医药卫生—内分泌]