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目的探讨性反转综合征临床及遗传学特点。方法对30例患者进行外周血染色体分析,采用PCR和琼脂糖凝胶电泳检测SRY、Y染色体15个AZF基因。结果 29例患者中,21例为46,XY、1例为45,X/46,X,t(Y:Y)女性性反转,7例为46,XX男性性反转,仅1例男性儿童SRY基因阴性,12例AZF检测的女性性反转者中仅1例有基因缺失,1例成人男性性反转者进行AZF检测,15个位点均缺失。儿童临床表现为生殖道畸形、性腺发育不良和矮小,成人为原发闭经或不孕。结论本地区儿童与成人性反转临床表现差异较大,SRY基因与46,XX男性性反转表型密切相关,是导致女性性反转发病的重要基因。
Objective To investigate the clinical and genetic features of reversal syndrome. Methods Peripheral blood chromosome analysis was performed in 30 patients. Fifteen AZF genes of SRY and Y chromosomes were detected by PCR and agarose gel electrophoresis. Results Of the 29 patients, 21 were 46, XY was 1, 45 was female, and X / 46, X, t (Y: Y) The SRY gene was negative in children. Only 1 of 12 female AZF test cases had gene deletion. One case of adult male sex reversal had AZF test, but none of the 15 loci were detected. Clinical manifestations of children with reproductive tract deformities, gonadal dysplasia and short, adult primary amenorrhea or infertility. Conclusion The clinical manifestations of reversal of children and adults in this area are quite different. The SRY gene is closely related to the sex reversal phenotype of 46 and XX males, which is an important gene that leads to the onset of female sexual inversion.