首页|少精症和无精症患者的性激素水平和细胞分子遗传学的临床诊断分析

少精症和无精症患者的性激素水平和细胞分子遗传学的临床诊断分析

Clinical analysis of sex hormone levels and cytogenetics in patients with oligospermia and azoospermia

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目的 通过分析少精症和无精症患者的性激素水平、Y染色体AZF微缺失以及染色体核型分析结果,探索少精症和无精症患者的相关遗传学病因.方法 回顾性分析55例无精子症和39例少精子症的性激素、抑制素B、Y染色体AZF微缺失与染色体核型的检测结果,同时选取同期32例健康男性为正常对照组.结果 无精组与少精组患者的LH和FSH与对照组相比均显著增高,而无精组的FSH和LH又显著高于少精组,差异有统计学意义(P<0.05);无精组的INHB显著低于少精组,差异有统计学意义(P<0.05),而其他激素在各组间水平比较差异无统计学意义(P>0.05).39例少精症患者中检出2例Y染色体微缺失,微缺失率为3.6%.55例无精症患者中检出5例(9.1%,5/55)Y染色体微缺失.39例少精症中检出核型异常1例(2.6%,1/39).55例无精症中检出核型异常15例(27.3%,15/55).结论 对少精症和无精症患者进行血清性激素、Y染色体AZF微缺失以及染色体核型分析联合检查,有助于临床医生评估男性不育患者的生精功能和明确相关遗传学病因,为患者的后续治疗方案提供合理的依据.
Objective The genetic etiology associated with patients with oligospermia and azoospermia was explored by analyzing sex hormone levels,Y chromosome AZF microdeletions,and chromosomal karyotyping results in patients with oligospermia and azoospermia.Methods The clinical data of 55 cases of azoospermia and 39 cases of oligospermia were ret-rospectively analyzed,including microdeletion of AZF gene and karyotype of sex hormone,statin B and Y chromosomes,and 32 healthy men were selected as normal control group.Results The levels of LH and FSH in the asospermia group and oli-gospermia group were significantly higher than those in the control group,while the levels of FSH and LH in the asospermia group were significantly higher than those in the oligospermia group,and the difference was statistically significant(P<0.05).INHB in no-spermia group was significantly lower than that in oligospermia group,the difference was statistically significant(P<0.05)and there was no significant difference in the levels of other hormones among all groups(P>0.05).Y chromosome microdeletion was detected in 2 of 39 patients with oligospermia,the deletion rate was 3.6%,and 5 of 55 patients with azospermia were detected,the deletion rate was(9.1%,5/55).There were 39 cases of oligospermia and one case with abnormal karyotype,the abnormal rate was(2.6%,1/39).There were 55 cases of azoospermia and 15 cases of abnormal karyotype,the abnormal rate was(27.3%,15/55).Conclusion The combined examination of serum sex hormone,Y chromosome AZF gene microdeletion and chromosome karyotype analysis can help clinicians to evaluate the spermatogenic function and identify the genetic cause of male infertility patients,and provide a reasonable basis for the follow-up treatment of patients.

azoospermiaoligospermiasex hormoneAZF microdeletionkaryotyping

付俞贺、罗小金、陈晓杭、白江涛、刘金星、曹宪振、刘维强

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深圳市龙岗区妇幼保健院/汕头大学医学院龙岗妇幼临床学院,广东深圳 518172

无精症 少精症 性激素 AZF微缺失 核型分析

深圳市龙岗区医疗卫生科技计划项目深圳市龙岗区医疗卫生科技计划项目

LGKCYLWS2020106LGKCYLWS2021000024

2024

中国优生与遗传杂志
中国优生科学协会

中国优生与遗传杂志

CSTPCD
影响因子:0.527
ISSN:1006-9534
年,卷(期):2024.32(1)
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