分泌雄激素的肾上腺皮质腺瘤致女性性发育异常一例  

Female sexual abnormality caused by androgen-producing adrenocortical adenoma： One case report

作　　者：张晓琳[1] 杨国庆[1] 谷伟军[1] 吕朝晖[1] 杜锦[1] 巴建明[1] 窦京涛[1] 母义明[1] 

机构地区：[1]解放军总医院内分泌科,北京100853

出　　处：《中华内分泌代谢杂志》2014年第8期673-677,共5页Chinese Journal of Endocrinology and Metabolism

摘　　要：目的报道本院1例分泌雄激素的肾上腺皮质腺瘤所致女性性发育异常病例，并探索该类肿瘤异常分泌雄激素的可能机制。方法取患者肿瘤组织作为实验组，以正常人肾上腺组织作为对照，进行LH／人绒毛膜促性腺激素（hCG）受体免疫组化检测，用酶联免疫吸附试验（ELISA）测定肾上腺组织3α-羟类固醇脱氢酶（3β-HSD）、17α-羟化酶（CYPl7）及17β-羟类固醇氧化还原酶（17β-HSD）酶活性检测，采用实时荧光定量聚合酶链式反应（RQ—PCR）方法测定3β-HSD2、17β-HSDB3、CYPl7及LH／hCG受体基因mRNA的表达。结果免疫组化染色显示实验组肿瘤组织细胞中LH／hCG受体表达为阴性（-），而对照组为强阳性（+）。ELISA测定酶活性显示实验组3β-HSD及CYPl7浓度明显高于对照组（P〈0．01），而17β-HSD浓度低于对照组（2638．798±70．551对9148．174＋382±836，P〈0．01）。RQ-PCR结果提示实验组3β-HSD2mRNA的相对含量较对照升高（P〈0．05），CYPl7基因的mRNA相对含量明显高于对照组（P〈0．01）．而17β-HSDB3及LH／hCG受体基因的mRNA相对含量低于对照组（P〈0．01）。结论分泌雄激素的肾上腺皮质肿瘤在临床上极少见，主要临床特征为未成年女性不同程度的性发育异常及成年女性男性化。其发病机制目前尚未明确，本研究推论可能与3β-HSD及CYPl7酶活性的升高有关，而与肾上腺皮质LH／hCG受体的表达量无关。Objective To describe a case of female sexual abnormality with 46, XX caused by an androgen- producing adrenocortical tumor and to explore the mechanism of abnormal androgen secretion from the tumor. Methods The tumor tissues as the experimental group were compared with the normal adrenal tissue. The LH/human chorionic gonadotropin （hCG） receptor was determined by immunohistochemisty, the activity of 3β-hydroxysteroid dehydrogenase （ 3β-HSD ）, 17α-hydroxylase （ CYP17 ）, and 17β-hydroxysteroid oxidoreductase （ 17β-HSD ） by enzyme linked immunosorhent assay （ELISA） and the expression of mRNA of 3 β-HSD2, 17β-HSDB3, CYP17, and LH/hCG receptor by real-quantitative polymerase chain reaction （RQ-PCR）. Results The immunohistochemisty results showed that the LH/hCG receptor was negative in the experiment group, but positive in control. The activity of 3β-HSD and CYP17 of the experiment group was higher than that in the control （ P〈0.01 ） , while the activity of 17β-HSD was lower （2 638. 798 ±70. 551 vs 9 148. 174±382. 836, P〈0.01 ） according to ELISA results. The relative content of 313-HSD2 mRNA of the experiment group was higher than that in the control （ P〈0.05 ） , and the relative content CYP17 mRNA of the experiment group was much higher than that in the control （P〈0.01）. However, the relative eontent of 17β-HSDB3 mRNA and LH/hCG receptor mRNA were much lower than those in the control （ P〈 0.01 ） by RQ-PCR. Conclusion Sexual abnormality and virilization could be caused by the excessive androgen seereted by androgen-producing adrenocortieal tumor, which is an extremely rare disease. The mechanism of the seeretion of androgen from the tumor remains unknown so far. It may be related to the increased activity of 3β-HSD and CYP17, hut has no relationship with the expression of LH/hCG receptor.

关 键 词：分泌雄激素肾上腺皮质肿瘤 性发育异常 男性化 

分 类 号：R736.6[医药卫生—肿瘤]