46XX男性性逆转综合征诊疗的临床分析(附3例报告).docVIP

46XX男性性逆转综合征诊疗的临床分析(附3例报告) 　　【摘要】目的：分析46XX男性性逆转综合征患者的临床特点，对临床诊疗提供借鉴。方法：运用核型分析、Y染色体微缺失分析、性激素测定、精液分析、彩色多普勒超声盆腔探查、睾丸组织病理学对3例男性性逆转综合征患者进行临床分析。 结果：3例男性性逆转综合征患者核型均为46XX，AZFabc区段均缺失，临床效应为无精症及男性不育症，均呈高促性腺激素型性腺功能减退（FSH及LH均显著增高），睾酮水平低下，盆腔B超未见子宫及附件等女性内生殖器。其中2例SRY阳性，性发育表现均为小睾丸，阴茎大小发育尚可；另外1例SRY阴性，B超未探及睾丸，性发育呈两性畸形外观。3例患者6个AZF位点（SY84及SY86、SY127，SY134，SY254及SY255）均缺失。睾丸病理学提示，曲细精管萎缩伴玻璃样变性，未见精子细胞及精子。结论：由于Y染色体AZF缺失导致的生精障碍可能是性逆转综合征导致男性不育的分子机制之一。男性性逆转综合征要与两性畸形及假两性畸形进行鉴别，通过SRY及AZF基因检测、核型分析、B超探查、激素检测及临床查体等可以进行鉴别及确诊，对于成年患者治疗上通过补充激素维持性征，对于婚后有生育诉求的患者可以借助于AID，对于青少年患者由于症状不典型容易漏诊，临床尚需加强对性逆转综合征的产前诊断，如胎儿生殖器性别和染色体核型性别不相符时，可行羊水穿刺脱落细胞SRY基因监测。 中国论文网 /6/view-7217620.htm 　　【关键词】性逆转综合征；男性不育：染色体；无精症；睾丸决定因子候选基因 　　Clinical analysis of diagnosis and the treatment of the males sex reversal syndrome with 46XXCHEN Liang1， FU Jie1， YU Li1， QI Wen1， PAN Hong1， CHEN Fei1， ZHANG Na1， WANG Sheng1， WANG Ling1， JU Huiyan1， XUE Qing1， HE Zhanju2， ZUO Wenli1， XU Yang1. 1. Medical Center of Reproductive and Genetics， Peking University First Hospital， Beijing 100034， China； 2.Department of Urology， Peking University First Hospital， Beijing 100034， China 　　【Abstract】Objectives： To better understand the diagnosis and treatment of male sex reversal syndrome with 46XX by analyzing the clinical cases. Methods： In 3 male infertile patients with 46XX， the expression of Sex-determining Region on the Y Chromosome （SRY） gene and 6 AZF sites on Y chromosome were detected by PCR. The level of serum sexual hormone was detected by chemiluminescence analysis， the quality of sperm was detected by semen analysis and the pelvic cavity was observed by color Doppler. Testicular tissue pathology was detected by immunohistochemistry. Results： The deletion of all the 6 AZF （abc） sites were found in the 3 male cases with 46XX， and the level of serum T was low but the level of FSH and LH was significantly increased. There was no sign of female internal genital organs. The expression of SRY gene was found in 2 patients and pelvic ultrasound de