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目的探讨男性性反转综合征患者的临床表现及细胞分子遗传学特征。方法分析2例男性反转综合征患者的临床表现,并进行性激素、染色体核型分析、Y染色体微缺失、SRY基因等检测。结果 2例患者社会性别均为男性,1例身材低于正常男性均值,1例身材高于正常男性均值。均因不育就诊,阴茎发育正常,双侧睾丸体积小、质地软,精液检查均为无精子症。性激素检查示高促性腺激素性性腺功能不全,染色体核型均为46,XX,Y染色体微缺失检测示AZFa,b,c区域均缺失,SRY基因均存在。结论男性表型的性反转综合征患者身材不一定矮小,其睾丸发育不良,均不育。患者的男性表型是由于基因组中存在SRY基因,无精子表型是由于缺失AZF。
Objective To investigate the clinical manifestations and molecular genetics of patients with male sexual inversion syndrome. Methods The clinical manifestations of 2 male patients with reversal syndrome were analyzed and sex hormones, chromosome karyotype analysis, Y chromosome microdeletions and SRY gene were detected. Results The two patients were all male, one was lower than the normal, and the other one was higher than the normal. Due to infertility treatment, normal penile development, bilateral testicular volume is small, soft texture, sperm examination are azoospermia. Hormone test showed high gonadotropin gonadal dysfunction, chromosome karyotype are 46, XX, Y chromosome microdeletion test showed that AZFa, b, c were deleted, SRY genes are present. Conclusion Male phenotype of patients with reversal syndrome is not necessarily short stature, the testicular dysplasia, are sterile. The phenotype of the patient is due to the presence of the SRY gene in the genome and the absence of the sperm phenotype due to the absence of AZF.