46，XX男性综合征患者细胞分子遗传学研究

Molecular and cytogenetic studies on a patient with 46, XX male syndrome

目的探讨46，XX男性综合征患者细胞分子遗传学特征。方法对1例46，XX男性综合征患者的临床特点进行回顾性分析，进行外周淋巴细胞染色体核型分析，对其SRY基因、Y染色体微缺失进行检测分析。并以正常男性及女性作对照。结果该患者社会性别为男性，身材较正常同龄男性身高均值低。因不育就诊，双侧睾丸体积小、质地中等，精液检查示无精子症。阴茎发育正常。B超检查示前列腺发育正常，未见到子宫、卵巢等女性生殖器官。性激素检查正常。染色体核型为46，XX（SRY＋），Y染色微缺失检测示AZFa，AZFb，AZFc及AZFd区域均缺失。结论基因组中存在SRY基因可能与该例46，XX男性综合征患者为男性表型密切相关。无精子症表型可能是缺乏位于Y染色体AZF区与精子生成相关基因造成的。

Objective To investigate the molecular and cytogenetic features of a patient with 46, XX male syndrome. Methods Clinical features of a patient with 46, XX male syndrome were retrospectively analyzed, and then karyotyping analysis, the expression of SRY gene, Y chromosome microdeletion were detected. A normal male and a normal female were taken as the controls. Results Social sex of the patient was male and his stature was short. Physical examination revealed that their testes were small in volume and medium in texture, whereas the penis was normal. Semen analyses showed complete azoospermia. Prostate developed normally. The uterus and ovaries were not observed by B ultrasound. Levels of serum sexual hormone were normal. The karyotype was 46, XX. Gene analysis revealed the expression of the SRY gene and absence of AZFa, AZFb, AZFc and AZFd of Y chromosome. Conclusion Male patient with phenotypically 46, XX （SRY ＋） had the phenotype characteristics of male,which might be associated with the expression of the SRY gene, whereas azoospermia might result from the deletion of AZF.