100％圆头精子症致不育1例并文献复习

摘要

Objective To investigate the pathogenesis and pathogenic factors of globozoospermia.Methods A 100%globozoospermia cases in Hebei Province plans to reproductive Science Institute of Technology Center Laboratory was re-ported, and combined with the retrieval of 17 Chinese roundheads azoospermia patients were studied.The causes of disease and infertility were retrospective analysis.Results The patient was diagnosed with 100%globozoospermia;detection indicates that the patient was DPY19L2 homozygous deletion,and his parents are all carriers of DPY19L2 deletion.The parents are dpy19l2 genes deletion carriers.Analysis of 18 cases of globozoospermia patients, clinical medical history inquiry in 9 cases, including smoking history in 1 case (11.11%), long-term medication history in 1 case (11.11%).12 cases was 100%globozoospermia (66.67%), sperm density were normal (100%), 14 cases of sperm motility is low (77.78%);9 cases for detection of reproductive hormone, except 1 case E2 levels slightly increased, other 8 cases (88.89%) of examination results in the normal range;16 routine dye color body check only found abnormal karyotypes 1 cases (6.25%), 12 cases of Y chro-mosome micro deletion detection were normal (100%);3 cases related to the detection of virulence factor genes and found dpy19l2 genes homozygous deletion in 1 cases (33.33%), other 2 cases not found related gene deletion phenomenon.Con-clusion Patients with infertility in globozoospermia showed low sperm activity, did not show other unique features.Globozo-ospermia there may be multiple candidate genes and pathogenesis of in-depth study of globozoospermia and molecular charac-teristics and its relation to the pathogenic factors of relationship, to explore the treatment of infertility and sperm egg binding mechanism are of great significance.%目的：探讨圆头精子症的发病机制和致病因素。方法对河北省计划生育科学技术研究院中心实验室1例100％圆头精子症病例进行报道，并结合检索的17例中国人圆头精子症患者进行分析，对其发病及不育原因进行回顾性分析。结果患者圆头精子率为100％，基因检测为DPY19L2基因纯合缺失，其父母均为DPY19L2基因缺失携带者。对18例圆头精子症病例进行分析，临床病史询问9例，其中有吸烟史1例（11．11％），有长期用药史1例（11．11％）。12例为100％圆头精子症（66．67％），精子密度均正常（100％），14例精子活力低下（77．78％）；9例进行生殖激素检测，除1例E2水平略有增高之外，其他8例（88．89％）的检查结果均在正常范围内；16例行染色体检查仅发现异常核型1例（6．25％），12例Y染色体微缺失检测均正常（100％）；3例行相关致病基因检测，发现DPY19L2基因纯合缺失1例（33．33％），另2例未发现相关基因缺失现象。结论圆头精子症不育患者除多数表现为精子活力低下外，并未显示出其他独特性特征。圆头精子症可能存在着多个候选致病基因，深入研究圆头精子症的发病机制与分子学特征及其与致病因素之间的关系，对于探索精卵结合的机制及不育症的治疗具有重要意义。