摘要
目的研究Y染色体嵌合体核型患者的男性生育功能实验室参数,探讨其相关特征,为该类患者的遗传咨询和治疗选择提供理论支撑。方法采用外周血细胞染色体培养方法对山东大学附属生殖医院就诊的40 006例男性患者进行染色体核型筛查分析,对Y染色体嵌合体核型患者,采用多重聚合酶链式反应(PCR)技术进行Y染色体无精子因子(AZF)缺失检测,并同时检测精液参数、性激素和血清抑制素B水平。结果 40 006例男性患者中筛查出81例Y染色体嵌合体核型,其中19例表现为Y染色体数目异常,无精子症发生率为78.95%,AZF缺失率为63.16%;30例表现为Y染色体结构异常,无精子症发生率为80.00%,AZF缺失率为93.33%;32例表现为Y染色体结构异常合并数目异常,无精子症发生率为93.75%,AZF缺失率为100%。3组间无精子症发生率比较差异无统计学意义,Fisher精确检验,P=0.188;3组间AZF缺失率比较差异有统计学意义,Fisher精确检验,P<0.001。数目异常组卵泡刺激素(FSH)均值为(19.74±8.39)IU/L,结构异常组为(18.99±12.26)IU/L,结构异常合并数目异常组为(19.96±7.20)IU/L,3组间比较差异无统计学意义,F=0.036,P=0.965;数目异常组黄体生成激素(LH)均值为(12.09±4.10)IU/L,结构异常组为(10.31±5.73)IU/L,结构异常合并数目异常组为(9.62±3.38)IU/L,3组间比较差异无统计学意义,F=1.476,P=0.236;数目异常组泌乳素(PRL)均值为(18.71±10.46)ng/mL,结构异常组为(16.81±6.02)ng/mL,结构异常合并数目异常组为(18.29±9.90)ng/mL,3组间比较差异无统计学意义,F=0.212,P=0.810。3组血清抑制素B(INHB)均值低于正常参考区间下限,3组间比较差异无统计学意义,F=2.717,P=0.079。结论 Y染色体嵌合体核型对男性生育功能实验室参数产生较大影响,其中Y染色体结构异常核型对无精子症发生率和AZF缺失率的影响大于Y染色体数目异常的影响,结构异常合并数目异常核型对上述两种参数的影响最大。此类患者的性激素和血清抑制素B也处于异常状态,但3组间差异没有统计学意义。
Objective To study the laboratory parameters of male fertility in patients with Y chromosome mosaic karyotype,explored their related characteristics,and provided theoretical support for genetic counseling and treatment options for such patients.Methods Peripheral blood cell chromosome culture method was used for karyotype screening analysis of 40 006 male patients in the Reproductive Hospital Affiliated to Shandong University.For patients with Y chromosome mosaic karyotype,multiple polymerase chain reaction(PCR)technology was used to carry out Y chromosome Azoospermia factor(AZF)deletion detection,as well as semen parameters,sex hormones and serum inhibin B levels.Results Among 40 006 male patients,81 cases of Y chromosome mosaic karyotypes were screened out,of which 19 cases showed abnormal Y chromosome number,the incidence of azoospermia was 78.95%,and the AZF deletion rate was 63.16%.30 cases showed Y chromosome structural abnormalities,the incidence of azoospermia was 80.00%,and the AZF deletion rate was 93.33%.32 cases showed abnormal Y chromosome structure combined with abnormal numbers,the incidence of azoospermia was 93.75%,and the AZF deletion rate was 100%.There was no statistically significant difference in the incidence of azoospermia among the three groups,Fisher’s exact test,P=0.188.The difference in the AZF deletion rate between the three groups was statistically significant,Fisher’s exact test,P<0.001.The mean value of follicle stimulating hormone(FSH)in the abnormal number group was(19.74±8.39)IU/L,the abnormal structure group was(18.99±12.26)IU/L,and the abnormal number group was(19.96±7.20)IU/L,the difference between the three groups was not statistically significant,F=0.036,P=0.965.The mean value of luteinizing hormone(LH)in the abnormal number group was(12.09±4.10)IU/L,and the abnormal structure group was(10.31±5.73)IU/L,the abnormal structure combined with the abnormal number group was(9.62±3.38)IU/L,there was no significant difference between the three groups,F=1.476,P=0.236.The average number of prolactin(PRL)in the abnormal number group was(18.71±10.46)ng/ml,the structural abnormality group was(16.81±6.02)ng/ml,and the number of structural abnormalities combined was(18.29±9.90)ng/ml.There was no significant difference between the three groups,F=0.212,P=0.810.The mean values of serum inhibin B(INHB)in the three groups were lower than the lower limit of the normal reference interval,and there was no statistically significant difference between the three groups,F=2.717,P=0.079.Conclusions The mosaic karyotype of Y chromosome has a great influence on male fertility.The abnormal structure of the Y chromosome has a greater impact on the incidence of azoospermia and AZF microdeletion rate than the abnormal number of the Y chromosome.The abnormal structure combined with abnormal number of the Y chromosome has the greatest impact on the above two parameters.The sex hormones and serum inhibin B of such patients are also in abnormal state,but the difference between the three groups is not statistically significant.
作者
傅海龙
李伟
陈虹
刘敏
徐佩文
高选
FU Hai-long;LI Wei;CHEN Hong;LIU Min;XU Pei-wen;GAO Xuan(Department of Laboratory Medicine,Reproductive Hospital Affiliated to Shandong University,Jinan 250001,China;Department of Clinical Laboratory,Qilu Hospital of Shandong University,Jinan 250012,China)
出处
《社区医学杂志》
CAS
2021年第9期547-552,共6页
Journal Of Community Medicine
基金
国家自然科学基金(81702066)
山东省重点研发计划(2019GSF108130)。
