低促性腺激素性性腺功能减退症患者Y染色体微缺失的检测

Y chromosome microdeletions in azoospermic patients with hypogonadotropic hypogonadism

目的观察低促性腺激素性性腺功能减退症(HH)患者Y染色体无精症基因(AZF)微缺失检测情况。方法对15例HH患者及作为对照组的14例已婚并有生育的男性,抽血测定血清卵泡刺激素(FSH)、黄体生成激素(LH)、睾酮浓度和染色体核型,进行生殖器体检并测量阴茎长度及睾丸容积。采用6个实验用序列标签位点(STS)(sY84、sY86、sY127、sY134、sY254、sY255)并以X/Y连锁锌指蛋白基因(ZFX/Y)为内对照,进行多重PCR筛查Y染色体微缺失。结果15例均未测出AZF微缺失,对照组14例样本也均未检出AZF基因微缺失。HH患者FSH、LH和睾酮浓度均低于对照组,HH患者阴茎长度及睾丸容积均小于对照组。结论Y染色体AZF缺失不是引起HH患者生精障碍的遗传因素,AZF缺失与HH之间可能存在不确定的关系。

【Objective】To study the occurrence of Y chromosome microdeletions in azoospermic patients with hypogonadotropic hypogonadism（HH）.【Methods】Blood and semen samples were collected from azoospermic patients with HH（n =15） and a control group of men of proven fertility（n=14）.Semen analysis was done according to World Health Organization（WHO） guidelines.Blood samples were processed for karyotyping,and plasma follicle stimulating hormone（FSH）,luteinizing hormone（LH） and testosterone were measured by radioimmunoassay.The testicular volume and penis length were measured.To determine the presence of Y chromosome microdeletions,6 sequence tagged sites（Y84,sY86,sY127,sY134,sY254,sY255） in the AZF region of Y chromosome were amplified from the isolated genomic DNA by multiplex polymerase chain reaction（multiplex PCR）,and ZFX/Y was used as an internal control.【Results】The levels of FSH,LH and testosterone in HH subjects were lower than those in the control group.The testicular volume was smaller and penis length was shorter in HH subjects than in the control group.Y chromosome microdeletions were not found in any of the 15 azoospermic subjects with HH.In addition,using similar conditions of PCR,no microdeletions were observed in the 14 fertile men evaluated.【Conclusion】0ur data suggest that classical AZF deletions might not play a role in predisposing genetic background for spermatogenous disturbance of azoospermic HH subject.There is an uncertain relation between AZF and HH.