Obstructive azoospermia

梗阻性无精子症
  • 文章类型: Journal Article
    背景:小儿腹股沟疝修补术(IHR)是梗阻性无精子症(OA)的常见原因。然而,这类OA的手术治疗仍然困难,生育结局差.
    目的:评价完全腹膜外腹腔镜辅助显微血管造口术(VV)治疗小儿双侧IHR所致OA的安全性和有效性。
    方法:完全,选取2015年3月至2020年12月上海市总医院收治的37例儿童双侧IHR所致OA患者。收集并分析患者的临床资料和生育结局。
    结果:所有入选患者均有1-10岁的双侧IHR病史。患者的平均年龄为27±4.31(范围:18-35)岁。对31例患者采用完全腹膜外腹腔镜(TEP)探查和取出盆腔输精管末端,其中30例成功进行了显微手术VV。在六个没有应用TEP的案例中,5例行显微外科吻合术。术中探查显示输精管损伤部位包括阴囊(2.70%,1/37),腹股沟管(5.41%,2/37),盆腔(78.37%,29/37),和多个网站(13.51%,5/37)。平均手术时间为339±96.73min(范围:130-510min)。无手术并发症。33例随访5-48个月,其中4例失访。总体通畅率,怀孕率,自然妊娠率为75.86%(22/29),46.67%(14/30),36.84%(7/19,3例没有计划生育),分别。七对夫妇通过辅助生殖技术怀孕,其中两个在射精中使用新鲜精子。
    结论:TEP腹腔镜辅助镜下VV是治疗儿童双侧IHR所致OA的有效方法。
    BACKGROUND: Pediatric inguinal hernia repair (IHR) is a common cause of obstructive azoospermia (OA). Yet, the surgical treatment for this kind of OA remains difficult with poor fertility outcome.
    OBJECTIVE: To evaluate the safety and effectiveness of totally extraperitoneal laparoscopy-assisted microsurgical vasovasostomy (VV) in the treatment of OA caused by pediatric bilateral IHR.
    METHODS: Totally, 37 patients with OA caused by pediatric bilateral IHR were enrolled in this study from March 2015 to December 2020 in Shanghai General Hospital. The clinical data and fertility outcomes were collected and analyzed.
    RESULTS: All patients enrolled had a history of bilateral IHR at the age of 1-10 years old. The mean age of patients was 27 ± 4.31 (range: 18-35) years. Totally extraperitoneal laparoscopy (TEP) was applied in 31 patients for the exploration and retrieval of pelvic vas deferens end, and 30 of them underwent microsurgical VV successfully. Among the six cases where TEP was not applied, five cases underwent microsurgical anastomosis. Intraoperative exploration revealed that the location of vas deferens injuries included scrotum (2.70%, 1/37), inguinal canal (5.41%, 2/37), pelvic cavity (78.37%, 29/37), and multiple sites (13.51%, 5/37). The mean operation time was 339 ± 96.73 min (range: 130-510 min). There were no surgical complications. Thirty-three cases were followed up for 5-48 months with four cases lost to follow-up. The overall patency rate, pregnancy rate, and natural pregnancy rate were 75.86% (22/29), 46.67% (14/30), and 36.84% (7/19, 3 patients without family planning), respectively. And seven couples conceived through the assisted reproductive technique, two of which using fresh sperm in the ejaculate.
    CONCLUSIONS: TEP laparoscopy-assisted microscopic VV is an effective treatment for patients with OA caused by pediatric bilateral IHR.
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  • 文章类型: Journal Article
    背景:粒细胞-巨噬细胞集落刺激因子(GM-CSF)及其受体在各种睾丸细胞和精子中的存在表明在增强精原和减数分裂后细胞发育中具有潜在作用。此外,GM-CSF激活与精子运动调节和葡萄糖代谢有关的关键途径。然而,GM-CSF对梗阻性无精子症(OA)患者睾丸活检的影响仍未被研究.因此,本研究旨在探讨GM-CSF对葡萄糖转运体相关基因表达及信号通路的影响,精子运动性,和睾丸活检的活力。
    结果:从20例诊断为OA的患者中提取睾丸精子后,每个样品分为两部分:将实验样品与含有2ng/mlGM-CSF的培养基在37°C孵育60分钟,和对照样品用不含GM-CSF的培养基孵育。随后,从伴侣身上取出的卵母细胞被注射治疗组和对照组的精子。精子参数(运动性和活力),精子运动相关基因的表达水平(PIK3R1,PIK3CA,和AKT1),并对精子能量代谢相关基因(GLUT1、GLUT3和GLUT14)的表达水平进行评估。此外,评价受精率和第3天胚胎发育率和胚胎质量。与未治疗组相比,补充GM-CSF的睾丸精子的运动参数和PIK3R1,AKT1和GLUT3的mRNA表达水平显着增加(p<0.05)。然而,PIK3CA的mRNA表达无显著差异,检测到GLUT1或GLUT14。根据ICSI的结果,与对照组相比,GM-CSF治疗组表现出明显更大的受精率(p=0.027),第3天胚胎发育率(p=0.001),和优质胚胎的比例(p=0.002)。
    结论:GM-CSF增加了运动性和能量代谢途径相关基因的表达,有效促进了睾丸摘除精子的运动性。因此产生积极的临床结果。
    BACKGROUND: The presence of granulocyte-macrophage colony-stimulating factor (GM-CSF) and its receptor in various testicular cells and spermatozoa suggests a potential role in enhancing spermatogonial and postmeiotic cell development. Moreover, GM-CSF activates the pivotal pathways implicated in sperm motility regulation and glucose metabolism. However, the impact of GM-CSF on testicular biopsies from patients with obstructive azoospermia (OA) remains unexplored. Therefore, this study aimed to investigate the in vitro effects of GM-CSF on the expression of genes related to glucose transporters and signaling pathways, sperm motility, and viability in testicular biopsies.
    RESULTS: Following testicular sperm extraction from 20 patients diagnosed with OA, each sample was divided into two parts: the experimental samples were incubated with medium containing 2 ng/ml GM-CSF at 37 °C for 60 min, and the control samples were incubated with medium without GM-CSF. Subsequently, the oocytes retrieved from the partner were injected with sperm from the treatment and control groups. The sperm parameters (motility and viability), the expression levels of sperm motility-related genes (PIK3R1, PIK3CA, and AKT1), and the expression levels of sperm energy metabolism-related genes (GLUT1, GLUT3, and GLUT14) were assessed. Furthermore, the fertilization and day 3 embryo development rate and embryo quality were evaluated. Compared with those in the nontreated group, the motility parameters and the mRNA expression levels of PIK3R1, AKT1, and GLUT3 in testicular sperm supplemented with GM-CSF were significantly greater (p < 0.05). However, no significant differences in the mRNA expression of PIK3CA, GLUT1, or GLUT14 were detected. According to the ICSI results, compared with the control group, the GM-CSF treatment group exhibited significantly greater fertilization rates (p = 0.027), Day 3 embryo development rate (p = 0.001), and proportions of good-quality embryos (p = 0.002).
    CONCLUSIONS: GM-CSF increased the expression of genes related to motility and the energy metabolism pathway and effectively promoted the motility of testis-extracted spermatozoa, consequently yielding positive clinical outcomes.
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  • 文章类型: Journal Article
    胞浆内单精子注射(ICSI)是一种直接将单个精子注入成熟卵母细胞的细胞质中的技术。这里,我们探讨了单精子冷冻保存在ICSI中的安全性.这项回顾性研究纳入了186对接受ICSI辅助妊娠的夫妇。根据精子类型将受试者分为新鲜精子(A组)/单精子冷冻保存(B组)组,与他们的临床基线/病理数据记录。我们使用符合ICSI的精子进行随后的体外受精,并对所有受试者进行了随访。两组的恢复率/冷冻存活率/精子活力,接受胚胎移植的妇女的妊娠/结局,并记录成功分娩妇女的分娩方式/新生儿相关信息。临床妊娠率,累积临床妊娠率,流产率,异位妊娠率,早产率,活产分娩率,新生儿出生缺陷率,和平均出生体重进行了分析。两组在年龄上无显著差异,身体质量指数,排卵诱导方案,性激素[抗苗勒管激素(AMH)/促卵泡激素(FSH)/促黄体生成素(LH)]水平,或卵母细胞回收周期。B组精子恢复率(51.72%~100.00%)和复苏率(62.09%±16.67%)均较高,两组精子活力无明显差异,符合ICSI要求。B组受精率增加,流产率下降,与A组相比,安全性提高,与新鲜精子相比,单精子冷冻保存在ICSI中的应用明显提高了受精率,降低了流产率,显示出更高的安全性。
    Intracytoplasmic sperm injection (ICSI) is a technique that directly injects a single sperm into the cytoplasm of mature oocytes. Here, we explored the safety of single-sperm cryopreservation applied in ICSI. This retrospective study enrolled 186 couples undergoing ICSI-assisted pregnancy. Subjects were allocated to the fresh sperm (group A)/single-sperm cryopreservation (group B) groups based on sperm type, with their clinical baseline/pathological data documented. We used ICSI-compliant sperm for subsequent in vitro fertilization and followed up on all subjects. The recovery rate/cryosurvival rate/sperm motility of both groups, the pregnancy/outcome of women receiving embryo transfer, and the delivery mode/neonatal-related information of women with successful deliveries were recorded. The clinical pregnancy rate, cumulative clinical pregnancy rate, abortion rate, ectopic pregnancy rate, premature delivery rate, live birth delivery rate, neonatal birth defect rate, and average birth weight were analyzed. The two groups showed no significant differences in age, body mass index, ovulation induction regimen, sex hormone [anti-Müllerian hormone (AMH)/follicle-stimulating hormone (FSH)/luteinizing hormone (LH)] levels, or oocyte retrieval cycles. The sperm recovery rate (51.72%-100.00%) and resuscitation rate (62.09% ± 16.67%) in group B were higher; the sperm motility in the two groups demonstrated no significant difference and met the ICSI requirements. Group B exhibited an increased fertilization rate, decreased abortion rate, and increased safety versus group A. Compared with fresh sperm, the application of single-sperm cryopreservation in ICSI sensibly improved the fertilization rate and reduced the abortion rate, showing higher safety.
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  • 文章类型: Case Reports
    不孕症影响全世界的夫妇。其中,梗阻性无精子症(OA)是常见原因。在某些情况下,射精中精子的缺乏是由于男性生殖道阻塞造成的。在这个案例研究中,我们讨论了一名不育男性,在三年的受孕尝试失败后被诊断为OA。由于先天性双侧输精管缺失,该男性有双侧腹股沟疝修补术史。诊断评估证实无精子症。显微附睾精子抽吸术(MESA)由于其疗效和术后疼痛减轻而用于精子提取,睾丸萎缩,睾丸激素水平下降。使用SpermMobil培养基处理回收的精子用于胞浆内精子注射。受精成功后,胚胎移植导致妊娠试验阳性。这个案例强调了OA的具体治疗方法的重要性,特别是MESA和SpermMobil在辅助生殖技术治疗男性不育方面取得成功的有效性。
    Infertility affects couples worldwide. Among these, obstructive azoospermia (OA) is a common cause. In some cases, the lack of spermatozoa in ejaculation results from blockages in the male reproductive tract. In this case study, we discuss an infertile male diagnosed with OA following three years of unsuccessful attempts at conception. The male had a history of bilateral inguinal hernia repair due to congenital bilateral absence of the vas deferens. Diagnostic assessments confirmed azoospermia. Microscopic epididymal sperm aspiration (MESA) was performed for sperm retrieval due to its efficacy and reduced postoperative pain, testicular atrophy, and decreased testosterone levels. The retrieved sperm was processed using SpermMobil media for intracytoplasmic sperm injection. Following successful fertilization, embryo transfers resulted in a positive pregnancy test. This case highlights the significance of specific treatment approaches for OA, specifically the effectiveness of MESA and SpermMobil in achieving successful outcomes in assisted reproduction technology for male infertility.
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  • 文章类型: Case Reports
    没有同侧睾丸损伤的附睾损伤是罕见的。我们报告了一例孤立的右附睾损伤并发左睾丸破裂的病例。
    一名21岁男子经历了因摩托车事故造成的阴囊创伤。观察阴囊的双侧肿胀和压痛。超声和计算机断层扫描显示左睾丸破裂;因此,进行了手术。手术期间,左睾丸被切除是因为它完全破裂了,对右睾丸和附睾进行评估,以确定右阴囊肿胀的原因。右睾丸没有受伤;然而,右附睾撕裂.随后,撕裂的右附睾用缝线修复。在手术后1、4和7个月进行的精液分析显示精液中没有精子。
    附睾损伤应作为阴囊损伤的鉴别诊断。
    UNASSIGNED: Epididymal injuries without ipsilateral injuries of the testicles are rare. We report a case of a solitary right epididymal injury complicated by left testicular rupture.
    UNASSIGNED: A 21-year-old man experienced scrotal trauma caused by a motorcycle accident. Bilateral swelling and tenderness of the scrotum were observed. Ultrasonography and computed tomography revealed a ruptured left testicle; therefore, surgery was performed. During surgery, the left testicle was excised because it was completely ruptured, and the right testicle and epididymis were evaluated to identify the cause of swelling of the right scrotum. The right testis was not injured; however, the right epididymis was lacerated. Subsequently, the lacerated right epididymis was repaired using sutures. A semen analysis performed at 1, 4, and 7 months after surgery revealed the absence of sperm in the semen.
    UNASSIGNED: Epididymal injuries should be considered as differential diagnoses for scrotal trauma.
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  • 文章类型: Journal Article
    目的:在梗阻性无精子症和非梗阻性无精子症中,卵胞浆内单精子注射周期与睾丸精子提取周期的比较有限,很少有研究涉及产科和新生儿结局。
    方法:本研究分析了因梗阻性无精子症和非梗阻性无精子症接受睾丸精子提取-卵胞浆内精子注射周期的夫妇,以确定非梗阻性无精子症患者的精子发生受损是否会导致更差的生殖结局和更高的妊娠并发症和胎儿畸形发生率。这项研究是一项回顾性研究,对2001年1月1日至2020年12月31日期间所有睾丸精子周期进行单中心分析.
    结果:研究中考虑了总共392对夫妇,导致1066个感应周期,梗阻性无精子症患者620例(58.2%),非梗阻性无精子症患者446例(41.8%)。两组的累积分娩率无显著差异(34%vs.31%;p=0.326)。梗阻性无精子症与非梗阻性无精子症患者的流产率相似。相反,受精率显示出统计学上的显着差异(梗阻性无精子症:66.1±25.7vs.非梗阻性无精子症:56.1±27.0;p<0.001)。非梗阻性无精子症组的总体产妇并发症发生率较高(10.7%vs.18.4%;p=0.035),但各病理均无统计学意义。对于单胎和双胎妊娠,两组之间的孕龄没有统计学差异。梗阻性无精子症组发生先天性缺陷7例,非梗阻性无精子症组2例。
    结论:尽管非梗阻性无精子症患者的精子发生受损,与梗阻性无精子症患者相比,生殖结局没有实质性差异,甚至在产科安全和新生儿健康方面。
    OBJECTIVE: Comparison of intracytoplasmic sperm injection cycles with testicular sperm extraction in obstructive azoospermia and non-obstructive azoospermia are limited, and few studies have addressed obstetric and neonatal outcomes.
    METHODS: This study analyzed couples who underwent testicular sperm extraction-intracytoplasmic sperm injection cycles for obstructive azoospermia and non-obstructive azoospermia to determine whether impaired spermatogenesis in non-obstructive azoospermia patients would lead to worse reproductive outcomes and higher rates of pregnancy complications and fetal anomalies. This study is a retrospective, single-center analysis of all testicular sperm cycles performed between January 1, 2001 and December 31, 2020.
    RESULTS: A total of 392 couples were considered in the study, leading to 1066 induction cycles, 620 (58.2%) from patients with obstructive azoospermia and 446 (41.8%) from non-obstructive azoospermia. The cumulative delivery rate did not significantly differ between the two groups (34% vs. 31%; p = 0.326). The miscarriage rate was similar between obstructive azoospermia and non-obstructive azoospermia patients. Fertilization rate instead showed a statistically significant difference (obstructive azoospermia: 66.1 ± 25.7 vs. non-obstructive azoospermia: 56.1 ± 27.0; p < 0.001). The overall maternal complication rate in the non-obstructive azoospermia group was higher (10.7% vs. 18.4%; p = 0.035), but there was no statistical significance for each pathology. There was no statistical difference in gestational age between the two groups for both single and twin pregnancies. Seven cases of congenital defects occurred in the obstructive azoospermia group, while two cases occurred in the non-obstructive azoospermia group.
    CONCLUSIONS: Despite impaired spermatogenesis in non-obstructive azoospermia patients, there were no substantial differences in reproductive outcomes compared to patients with obstructive azoospermia, even in terms of obstetric safety and neonatal well-being.
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  • 文章类型: Journal Article
    阻塞性无精子症(OA)约占男性不育无精子症的40%。目前,OA的可用治疗包括生殖道手术重建和睾丸精子取出。然而,与正常妊娠相比,这两种治疗方法都会导致低生育率,主要原因在很大程度上仍然未知。先前的研究表明,与正常成年男性相比,从OA患者中提取的精子质量较差,但没有深入研究。在这里,我们建立了输精管结扎术小鼠OA模型,以系统地评估精子质量。我们的结果表明,OA患者和小鼠的睾丸精子发生正常,但凋亡活性增加。更重要的是,附睾形态异常,附睾小管肿胀和液泡样主要细胞。尤其是,从OA小鼠附睾中取出的精子在体外运动能力差,受精能力低。使用附睾液中的质谱,我们发现精子成熟关键蛋白的表达存在差异,如血管紧张素原(AGT),rhophilin相关尾蛋白1(ROPN1),NPC细胞内胆固醇转运蛋白2(NPC2),并突出于1(PROM1)。此外,我们的结果表明AGT,由附睾主细胞分泌,可以通过控制PKCα的表达来调节精子的运动,从而改变精子的磷酸化。总之,我们的数据系统地评估了OA小鼠的精子质量,有助于理解精子和附睾之间的关系,这可能为男性不育的治疗提供新的见解。
    Obstructive azoospermia (OA) accounts for approximately 40% of males who suffer from azoospermia of male infertility. Currently, available treatment for OA consists of reproductive tract surgical reconstruction and sperm retrieval from the testis. However, both treatments result in low fertility compared to normal pregnancy, and the main reason remains largely unknown. Previous studies have shown that the quality of sperm retrieved from OA patients is poor compared with normal adult males but without an in-depth study. Herein, we generated a mouse OA model with vasectomy to evaluate sperm quality systematically. Our results showed that the testis had normal spermatogenesis but increased apoptotic activity in both OA patients and mice. More importantly, epididymal morphology was abnormal, with swollen epididymal tubules and vacuole-like principal cells. Especially, sperm retrieved from the epididymis of OA mice showed poor motility and low fertilization ability in vitro. Using mass spectrometry in epididymal fluid, we found differences in the expression of key proteins for sperm maturation, such as Angiotensinogen (AGT), rhophilin-associated tail protein 1 (ROPN1), NPC intracellular cholesterol transporter 2 (NPC2), and prominin 1 (PROM1). Furthermore, our results demonstrated that AGT, secreted by epididymal principal cells, could regulate sperm motility by managing PKCα expression to modify sperm phosphorylation. In conclusion, our data evaluate sperm quality systematically in OA mice and contribute to the understanding between the sperm and epididymis, which may provide novel insight into treating male infertility.
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  • 文章类型: Journal Article
    显微外科血管附睾吻合术(VEA)后,精子返回射精的吻合通畅并不总是存在,甚至可能延迟。活动精子的存在高度暗示了手术后的未来通畅。
    我们前瞻性地分析了在接受显微外科手术的梗阻性无精子症(OA)患者中,可以预测附睾活动精子的因素和通畅的预测因素。
    印度北部三级护理中心泌尿外科。这是一项前瞻性观察性研究。
    在2年期间(2019年7月至2021年6月),26例特发性OA患者纳入研究。20例患者接受了显微外科手术VEA。根据术中活动精子的存在/不存在,将患者分为两组。
    使用Mann-WhitneyU检验对术前和术中因素进行分析,卡方检验和费休精确检验。
    在20名患者中,5(第2组)在附睾液中有运动精子,而15(第1组)有不运动精子。低黄体生成素(LH)水平(P=0.01)和高睾丸激素水平(P=0.05)是附睾液中活动精子存在的预测因素。平均随访9个月(6-18个月)。较高通畅性的预测因素是2级附睾(牢固,紧张和紧张)(P=0.003),低LH水平(P=0.03),低支持细胞指数(P=0.006),精子支持指数较高(P=0.002),外科医生满意度较高(P=0.01)。
    低LH水平和高睾丸激素水平可能是附睾液中活动精子存在的预测因素。公司,肿胀和紧张的附睾,低支持细胞指数,高精子-Sertoli指数和外科医生满意度提示特发性无精子症VEA术后成功的机会更大.
    UNASSIGNED: Following microsurgical vaso-epididymal anastomosis (VEA), anastomotic patency with sperm returning to the ejaculate is not always present and may even be delayed. The presence of motile spermatozoa is highly suggestive of future patency following surgery.
    UNASSIGNED: We prospectively analyse the factors that could predict motile spermatozoa at the epididymis intraoperatively and predictors of patency in patients with obstructive azoospermia (OA) undergoing microsurgical VEA.
    UNASSIGNED: Department of Urology of a tertiary care centre in Northern India. It is a prospective observational study.
    UNASSIGNED: Over a 2-year period (July 2019 to June 2021), 26 patients with idiopathic OA were enrolled in the study. Twenty patients underwent microsurgical VEA. Patients were divided into two groups based on the presence/absence of intraoperative motile spermatozoa.
    UNASSIGNED: Analysis of preoperative and intraoperative factors was done using the Mann-Whitney U-test, Chi-squared test and Fischer exact test.
    UNASSIGNED: Out of 20 patients, 5 (group 2) had intraoperative motile spermatozoa in the epididymal fluid and 15 (group 1) had nonmotile spermatozoa. Low luteinising hormone (LH) levels (P = 0.01) and high testosterone levels (P = 0.05) were the predictive of presence of motile spermatozoa in epididymal fluid. Mean follow-up was 9 months (6-18 months). Predictors of higher patency were grade 2 epididymis (firm, turgid and tense) (P = 0.003), low LH levels (P = 0.03), low sertoli cell index (P = 0.006), high sperm-Sertoli index (P = 0.002) and better surgeon satisfaction (P = 0.01).
    UNASSIGNED: Low LH levels and high testosterone levels may be predictive of the presence of motile spermatozoa in epididymal fluid. Firm, turgid and tense epididymis, low Sertoli cell index, high sperm-Sertoli index and surgeon satisfaction suggest a greater chance of success after VEA for idiopathic azoospermia.
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  • 文章类型: Journal Article
    目的:在本研究中,我们旨在鉴定中国男性不育症谱系中与不育相关的变异,并揭示受影响成员的不同表型和胞浆内单精子注射(ICSI)结局.
    方法:对男性患者进行体检。G带核型分析,拷贝数变异测序,并进行定量荧光PCR检测先证者常见的染色体异常。应用全外显子组测序和Sanger测序对致病基因进行鉴定,并通过WesternBlot体外鉴定由突变引起的蛋白质表达变化。
    结果:在所有不育男性家系患者中发现了ADGRG2中的一种新的无义突变(c.908C>G:p.S303*),是从他们的母亲那里继承的。该变体在人类基因组数据库中不存在。在具有正常生殖能力的男性成员中也意外地发现了这种突变。突变的成员有不同的生殖器表型,从正常到扩张的输精管表型,精索静脉和附睾。突变后在体外存在截短的ADGRG2蛋白。在接受ICSI治疗的三名患者妻子中,只有一个成功分娩。
    结论:我们的研究首次报道了X连锁无精子症家系ADGRG2中的c.908C>G:p.S303*突变,并且是第一个报道具有该突变的成员的正常生育力的研究,扩大该基因的突变谱和表型谱。在我们的研究中,ISCI在包括具有这种突变的无精子症的男性在内的夫妇中的成功率仅为三分之一。
    OBJECTIVE: In this study, we aimed to identify sterility-related variants in a Chinese pedigree with male infertility and to reveal the different phenotypes and intracytoplasmic sperm injection (ICSI) outcomes of the affected members.
    METHODS: Physical examinations were performed on male patients. G-band karyotype analysis, copy number variation sequencing, and quantitative fluorescent PCR were conducted to detect common chromosomal disorders in the probands. Whole-exome sequencing and Sanger sequencing were applied to identify the pathogenic genes and the protein expression changes caused by the very mutation were identified by Western Blot in vitro.
    RESULTS: A novel nonsense mutation (c.908C > G: p.S303*) in the ADGRG2 was identified in all infertile male patients of the pedigree, which was inherited from their mothers. This variant was absent from the human genome databases. This mutation was also unexpectedly found in a male member with normal reproductive capability. Members with the mutation had different genitalia phenotypes, ranging from normal to dilated phenotypes of the vas deferens, spermatic veins and epididymis. There was a truncated ADGRG2 protein in vitro after mutation. Of the three patients\' wives treated with ICSI, only one successfully gave birth.
    CONCLUSIONS: Our study is the first to report the c.908C > G: p.S303* mutation in the ADGRG2 in an X-linked azoospermia pedigree and is the first to report normal fertility in a member with this mutation, expanding the mutation spectrum and phenotype spectrum of this gene. In our study, ISCI had a success rate of only one-third in couples including men with azoospermia with this mutation.
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  • 文章类型: Journal Article
    输精管切除术损伤是开放式无网片疝修补术的常见并发症。这项研究是对由开放式非网状腹股沟疝修补术引起的单侧或双侧血管阻塞患者的输精管损伤的特征和可能原因的回顾性分析。术中确认输精管阻塞的部位。数据,手术方法,并检查患者的预后。采用Anderson-Darling检验对数据的高斯分布进行检验。采用Fisher精确检验或Mann-WhitneyU检验和非配对t检验进行统计分析。手术时的平均年龄为7.23(标准差[s.d.]:2.09)岁,平均阻塞间隔为17.72(s.d.:2.73)岁。进行交叉(n=1)和腹股沟(n=42)血管造口术。总体通畅率为85.3%(29/34)。在43名患者中(平均年龄:24.95[s.d.:2.20]岁),探索了其腹股沟区域的73侧。在54侧的内环中发现输精管的断开端(74.0%),在16侧腹股沟管中发现(21.9%),并在3侧(4.1%)的盆腔中发现。根据疝气手术时的年龄(≥12年或<12年)或阻塞间隔(≥15年或<15年),输精管损伤的位置没有显着差异。这些结果强调,在开放式非网状腹股沟疝修补术中,疝囊的高度结扎术值得外科医生格外小心。
    Vasectomy damage is a common complication of open nonmesh hernia repair. This study was a retrospective analysis of the characteristics and possible causes of vas deferens injuries in patients exhibiting unilateral or bilateral vasal obstruction caused by open nonmesh inguinal herniorrhaphy. The site of the obstructed vas deferens was intraoperatively confirmed. Data, surgical methods, and patient outcomes were examined. The Anderson-Darling test was applied to test for Gaussian distribution of data. Fisher\'s exact test or Mann-Whitney U test and unpaired t-test were used for statistical analyses. The mean age at operation was 7.23 (standard deviation [s.d.]: 2.09) years and the mean obstructive interval was 17.72 (s.d.: 2.73) years. Crossed (n = 1) and inguinal ( n = 42) vasovasostomies were performed. The overall patency rate was 85.3% (29/34). Among the 43 enrolled patients (mean age: 24.95 [s.d.: 2.20] years), 73 sides of their inguinal regions were explored. The disconnected end of the vas deferens was found in the internal ring on 54 sides (74.0%), was found in the inguinal canal on 16 sides (21.9%), and was found in the pelvic cavity on 3 sides (4.1%). Location of the vas deferens injury did not significantly differ according to age at the time of hernia surgery ( ≥ 12 years or <12 years) or obstructive interval (≥15 years or <15 years). These results underscore that high ligation of the hernial sac warrants extra caution by surgeons during open nonmesh inguinal herniorrhaphy.
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