46,Y,t(X;19)伴生精阻滞型非梗阻性无精子症个案报道及文献回顾

目的探究生精阻滞型非梗阻性无精子症的染色体遗传学因素。方法回顾分析1例生精阻滞型非梗阻性无精子症患者X与常染色体平衡易位并进行文献回顾。结果本例非梗阻性无精子症患者,染色体核型为46,Y,t(X;19)(p22.1;q13.3),其父母核型正常,Y染色体微缺失检查未见明显异常,全外显子测序未见明显致病基因突变,染色体微阵列分析(chromosomal microarray analysis,CMA)未见明显致病拷贝数变异(copy number variation,CNV),患者睾丸组织病理提示:精母细胞阻滞型非梗阻性无精子症。结论46,Y,t(X;19)平衡异位可以导致生精阻滞型非梗阻性无精子症。     

CYP21A2基因复合杂合突变及多基因突变的男性无精症一例并文献复习

CYP21A2基因突变可引起21-羟化酶缺乏症,导致先天性肾上腺皮质增生症和性腺发育异常。根据CYP21A2基因突变位点不同,21-羟化酶缺乏症的临床表型存在异质性,成年患者常以生育障碍为首诊原因。CYP21A2基因突变同时合并多基因突变的复杂病例,国内外尚少见报道。报道1例CYP21A2基因c.518T>A/c.293-13A>G复合杂合突变的男性无精症病例,该患者合并DNAJB13/DNAI1/QRICH2J/FSIP2/HYDIN多基因突变,临床表型为男性不育症,经3个月糖皮质激素治疗后获得生精功能。该病例丰富了有关男性不育症的基因型,也为此类复合杂合基因突变疾病的诊治提供了临床经验。     

睾丸萎缩对性功能的影响

睾丸萎缩对性功能的影响上海第二医科大学附属仁济医院泌尿外科教授王益鑫睾丸主要有二种功能，其一是睾丸曲细精管产生精子。正常成年男性的睾丸一天可产生约７千万个精子。若睾丸萎缩则可引起睾丸生精功能障碍，出现少精子症或无精子症，造成男性不育；睾丸的另一种功能...     

SEPT12基因突变伴严重弱精合并多囊肾一例并文献复习

目的：报道1例严重弱精子症合并多囊肾患者的SEPT12基因突变,通过文献复习,探讨SEPT12基因突变的病理作用。方法：回顾1例严重弱精子症合并多囊肾患者的临床表现、实验室检查和基因检测结果,结合相关文献资料进行总结分析。结果：本例患者为SEPT12基因c.947A＞G（p.N316S）杂合变异和c.900C＞G（p.D300E）杂合变异。患者可以选择胚胎植入前遗传学诊断或者供精,患者夫妇经过慎重考虑后选择供精人工授精以避免将遗传病传给子代。结论：此例严重弱精子症合并多囊肾患者携带的SEPT12基因c.947A＞G（p.N316S）杂合变异和c.900C＞G（p.D300E）杂合变异患者的诊治过程,提示在临床上遇到严重弱精子症患者, 要考虑是否存在成人型多囊肾的可能,采取基因检测发现相关基因的突变,并避免将遗传病传给子代。     

精子疾病种种

精子疾病种种文／是明启１无精精液中没有精子，叫无精症．引起该病的原因有二：一是睾丸的生精功能障碍．不能产生精子，如隐睾、睾丸炎、药物影响等；二是输精管阻塞，虽然睾丸生精正常，但精子不能排出体外，如输精管先天畸形、精道阻塞等．２死精正常精液里，活动精子...     

354例男性无精子症患者睾丸活检的病理形态学分析

目的：探讨男性不育患者睾丸活检的组织病理形态学特征及在男性不育诊治中的临床及病理意义。方法镜检观察我生殖中心2009-2012年间354例男性不育患者睾丸组织活检,分别依据睾丸生殖病理及Johnsen评分法[1]进行诊断并进行分析。结果①我中心一直以来依据睾丸生殖病理进行诊断,睾丸活检结果分析：其中202例为唯支持细胞综合征（57.06%）;56例为生精阻滞（15.8%）,其中54例阻滞在精母细胞阶段,2例阻滞在精子细胞阶段;50例为生精细胞脱落和生精细胞排列紊乱（14.12%）;30例为混合损害型（8.47%）;9例以支持细胞综合征为主伴生精阻滞（2.54%）;4例为透明变（1.13%）性;2例大部分组织透明变性,少数管腔见少数支持细胞（0.57%）;1例为附睾组织（0.28%）。②回顾性复习切片,按Johnsen评分法进行诊断分析：精子发生功能减低（8-9分）50例;精子细胞分化障碍的（6-7分）2例;初级精母细胞成熟受阻的（4-5分）54例;唯支持细胞综合征还（2分以下）209例。还有一些病例按Johnsen评分不能准确进行生精功能评定。30例切片表现为生精细胞剥落和排列紊乱、唯支持细胞综合征及透明变性,比例不定,有的生精细胞剥落和排列紊乱为主,有的以唯支持细胞综合征为主,其中有2例仅2-4管腔见生精细胞及精子。9例切片表现以支持细胞综合征为主伴生精阻滞（阻滞在精母细胞）。结论睾丸活检可直接评价睾丸的生精功能以及生精障碍的程度,对不育患者的治疗及预后判断有实用价值,加之卵胞浆内单精子注射（ICSI）技术的成熟应用,在辅助生殖技术中有助于指导无精子症患者选择适当的治疗方法。     

仅存单侧小睾丸患者配偶自然妊娠1例

小睾丸症常常伴有无精子症或精子质量功能低下的表现.该类患者大多系由于原发或继发性原因造成睾丸发育过小,睾丸生精上皮不足,生精功能减退而最终导致患者无法获得血亲后代.本文报道1例仅存单侧小睾丸(对侧睾丸隐睾可能),且伴有重度少弱精症患者配偶自然妊娠病例,并借以对小睾丸患者的诊治及穿刺活检的相关研究进展作简要综述.     

无精子症竟会传染

由于生活方式、环境、遗传等因素影响,男性不育的数量逐渐增加.其中,还有部分男性患上了无精子症.导致睾丸生精障碍的病因很多,其中的一个致病因素,是一种会在人们之间相互传染的病毒.而这种可能会引起男性睾丸萎缩、精子生成障碍,导致无精子症的病毒,竟然是腮腺炎病毒.     

无精症有对策吗

<正>【专家说病】何为无精症,通俗的说就是精液中没有精子。医学上定义为"在所射出的精液中连续3次找不到一个精子,称为无精症"。是男性不育中最严重、最难治愈的疾病之一。无精症约占男性不育症患者的15%~20%。其病因复杂,根据其病因可概括为两大类:一是睾丸产生精子的功能受损,就是睾丸本身不能产生精子,称为非梗阻性无精症;另一类为睾丸可正常产生精     

来曲唑治疗睾丸生精功能障碍疗效及对性激素水平的影响

目的探讨来曲唑对睾丸生精功能障碍疗效及对雌二醇(Estradiol, E_2)、睾酮(testosterone,T)、卵泡刺激素(follicle stimulating hormone, FSH)、黄体生成素(luteinizing hormone, LH)、泌乳素(prolactin, PRL)、T/E_2、抑制素B(inhibin B, INH-B)的影响。方法选取2014年6月—2017年8月期间在我科经来曲唑治疗的203例睾丸生精功能障碍患者为研究对象,包括中重度少精子症组(n=165)和无精症组(n=38),均给予来曲唑治疗至少6个月(2.5 mg/d),观察给药前后的性激素水平、精液分析与睾丸活检结果,以及不良反应情况。结果 (1)给药后患者的血T、FSH、LH、INH-B水平、T/E_2的比值显著升高,血E_2水平显著降低,差异有统计学意义(P0.05),而血PRL水平给药前后无明显变化,差异无统计学意义(P0.05)。(2)中重度少精子症组患者给药6个月后的精子总数、形态正常率、存活率、a+b级的精子比例、有效精子总数比给药前均显著升高,差异有统计学意义(P0.05),仅有11例(6.7%)患者的精液分析结果无改善。(3)无精症组38例患者中仅有2.6%患者给药6个月后的精液中出现精子,其有效精子总数的平均值为0.43×10~6/ml,在睾丸活检方面,给药前JOHNSEN评分为(6.8±2.4)分,治疗6个月后JOHNSEN评分为(8.5±0.9)分,组间比较具有统计学意义。(4)全部患者在治疗期间均未出现严重并发症,耐受性良好,所有不良事件在停药后均消失。结论来曲唑能显著降低睾丸生精功能障碍患者的血E_2水平,提高血T、FSH、LH、INH-B的水平,明显改善生精功能可为无精症治疗提供一个新的选择,具备进一步研究价值。     

Mutations of the Cyclin A1 Gene are Not a Common Cause of Male Infertility

Cyclin A1 is essential for meiosis as shown by its essential role in mouse spermatogenesis, suggesting that changes in the gene may also alter male fertility in humans. In the present study, we performed a mutation screening of the cyclin A1 gene in order to investigate the possible association between the mutations of the gene and human impaired spermatogenesis using denaturing high performance liquid chromatography (DHPLC) in 347 infertile patients with azoospermia or severe oligozoospermia and 210 fertile controls. Four point mutations, c.321T>C, IVS3 +32G>C, IVS5+38A>G and c.1158G>A, were identified, but no association of these with spermatogenesis impairment was detected, suggesting that these cyclin A1 gene mutations are unlikely a common genetic cause for impaired human spermatogenesis.     

卵浆内单精子注射治疗男性因素不育

为探讨卵浆内单精子显微注射(ICSI)及经皮穿刺附睾吸取精子(PESA)治疗严重少、弱、畸形精子及精道不通男性不育患者的价值,对7对男性不育夫妇采用ICSI或PESA+ICSI治疗。对女方常规促超排卵、取卵,共获卵子97个,其中成熟卵子81个,行ICSI后存活72个,受精率为62.5％,每周期可移植胚胎2～4个,临床妊娠6例。于1998年2月16日足月出生一正常男婴(PESA+ICSI)。初步研究表明:ICSI或PESA+ICSI技术是治疗男性因素不育的有效方法,尤其PESA+ICSI技术为男性输精管绝育(结扎、粘堵)受术者提供生殖保险。     

腹股沟疝修补术致双侧输精管梗阻的临床研究

目的:探查腹股沟疝修补术导致输精管梗阻的原因及输精管再通的可复性。方法:做患者双侧输精管造影确定梗阻部位,并对患侧行手术探查及通液。结果:输精管造影显示双侧输精管显影至耻骨联合上方两侧,探查术中可见右侧腹股沟管中段近睾端输精管断端,输精管远端消失;对左侧腹股沟管内环口处输精管局部狭窄的可疑梗阻部位进行穿刺,用6号平针头加压突破输精管狭窄梗阻部位,有明显突破感。然后行输精管注水通畅试验,再向睾丸方向输精管穿刺抽取精液化验可见成活精子。结论:输精管断离和手术钳夹输精管损伤,是腹股沟疝修补术导致输精管梗阻的两种原因,再通治疗困难。而采用针头穿刺疏通法时未放置导丝,易引发术后输精管管腔粘连导致再次梗阻。     

Causes of azoospermia and their management

Azoospermia may occur because of reproductive tract obstruction (obstructive azoospermia) or inadequate production of spermatozoa, such that spermatozoa do not appear in the ejaculate (non-obstructive azoospermia). Azoospermia is diagnosed based on the absence of spermatozoa after centrifugation of complete semen specimens using microscopic analysis. History and physical examination and hormonal analysis (FSH, testosterone) are undertaken to define the cause of azoospermia. Together, these factors provide a >90% prediction of the type of azoospermia (obstructive v. non-obstructive). Full definition of the type of azoospermia is provided based on diagnostic testicular biopsy. Obstructive azoospermia may be congenital (congenital absence of the vas deferens, idiopathic epididymal obstruction) or acquired (from infections, vasectomy, or other iatrogenic injuries to the male reproductive tract). Couples in whom the man has congenital reproductive tract obstruction should have cystic fibrosis (CF) gene mutation analysis for the female partner because of the high risk of the male being a CF carrier. Patients with acquired obstruction of the male reproductive tract may be treated using microsurgical reconstruction or transurethral resection of the ejaculatory ducts, depending on the level of obstruction. Alternatively, sperm retrieval with assisted reproduction may be used to effect pregnancies, with success rates of 25-65% reported by different centres. Non-obstructive azoospermia may be treated by defining the cause of low sperm production and initiating treatment. Genetic evaluation with Y-chromosome microdeletion analysis and karyotype testing provides prognostic information in these men. For men who have had any factors potentially affecting sperm production treated and remain azoospermic, sperm retrieval from the testis may be effective in 30-70% of cases. Once sperm are found, pregnancy rates of 20-50% may be obtained at different centres with in vitro fertilisation and intracytoplasmic sperm injection.     

Tolerance to ethanol in the rat vas deferens. Effect of a calcium channel antagonist

Previous research from this laboratory indicated that ethanol dose-dependently depressed vas deferens contractions. The experiments described here examine the role calcium plays in the inhibitory action of ethanol in this tissue. Rat vas deferens tissues obtained from control (dextrin maltose) or chronically ethanol-treated animals were stimulated in the absence and then in the presence of 181 mM ethanol and/or a calcium channel blocker. Increasing the extracellular calcium concentration from 2.1 to 5.0 mM decreased ethanol's in vitro inhibitory effect on contractions induced by norepinephrine, KCl or electrical stimulation. Following chronic in vivo ethanol administration, increasing the calcium concentration to 5 mM blocked this inhibition. Nifedipine, a calcium channel antagonist inhibited vas deferens contractions. In the presence of nifedipine, in vitro ethanol further depressed vas deferens contractions stimulated by norepinephrine, K+ and by electrical stimulation. In vivo ethanol treatment attenuated ethanol's inhibition in vitro, and reduced the blocking effect of the calcium antagonist on mechanical responses of the vas in ethanol-free medium. These data suggest that changes in calcium mobilization are involved in both the acute action of ethanol and the development of tolerance.     

精子发生障碍的遗传学研究进展

不孕不育影响着约10%～15%的夫妇,其中男性因素约占一半。精子发生障碍是男性不育的主要病因,主要表现为无精子症或少弱精子症。大量研究已经确定Y染色体及Yq微缺失与男性不育的相关性。X染色体因其在男性仅有单拷贝而在精子生成过程中表达特殊,对精子发生障碍有重要意义。对畸精子症和弱精子症患者的研究表明,位于常染色体的4个基因（SPATA16,PICK1,CATSPER和AURKC）可能与精子发生障碍有关。虽然经全球范围的努力,预期在不久的将来可提供新的基因检测技术来检测精子发生障碍的遗传学原因,但目前可用于精子发生障碍的基因测试仍然有限。     

Obstructive azoospermia caused by low ligation of varicocele: A case report

Varicocele is commonly observed in male partners of infertile couples. The surgical ligation of varicoceles under microscopy can be safely performed by a skilled andrologist with most patients subsequently experiencing an improvement in semen quality. This is the first case in which obstructive azoospermia occurred after high inguinal varicocelectomy. The vas deferens was disrupted near the internal inguinal ring by fibrous tissue. A vasovasostomy was performed and semen parameters subsequently recovered.     

罕见46,XY/47,XYY嵌合体型女性患者病因诊断的遗传咨询模式探讨

目的:报道1例46,XY/47,XYY嵌合体女性性反转,探讨其病因诊断路径,提供临床的遗传咨询。方法:临床特征分析和家系调查。采用外周血淋巴细胞核型分析技术进行染色体核型分析,同时基于二代测序技术（NGS）的全基因组拷贝数变异测序（CNV-seq）进行外周血标本拷贝数变异检测及性别决定基因（SRY基因）及AZF基因位点检测。结果:家系调查表明,该患者具有伴X隐性遗传模式;临床上呈现共外显性特征;社会性别为女性,患者的外周血染色体核型结果为46,XY[57%]/47,XYY[13%],染色体拷贝数变异检测示:Arr[hg19]46,XY[70%]/47,XYY[30%],Yp11.31-q11.223×3,dup(6)(q14.1),SRY基因检测阳性,AZF基因所检测位点均未见缺失。结论:细胞遗传学染色体核型分析技术及CNV-seq均可确诊46,XY/47,XYY嵌合体女性性反转综合征,其遗传病因可能为DAX-1基因表达异常。整合了针对46,XY性反转快速诊断路径的遗传咨询模式,供临床参考。