精子冷冻环无保护剂玻璃化冷冻方法的初步研究

目的探讨精子冷冻环无保护剂玻璃化冷冻方法的可行性。方法正常精液标本上游处理后,进行常规冷冻和冷冻环无保护剂的玻璃化冷冻,复苏后分别从活力参数及电镜下超微结构等指标比较两种冷冻方法的效果。结果两种方法冷冻后精子存活率、活动率之间差异无显著性(48%∶48%;44.5%∶43.5%,P>0.05),但均较未冷冻的89%和88.5%明显下降(P<0.001)。超微结构亦较未冷冻时发生了一定的改变,但核结构基本保持完整。结论精子冷冻环无保护剂的玻璃化冷冻是一种简单、方便而行之有效的冷冻方法。     

庚酸睾酮男性抗生育作用的临床研究

62名健康男性,自愿接受每周1次200mg庚酸睾酮(TE)肌肉注射的避孕方法研究。4人非医学原因中断试验,其余受试者先后实现无精子,自第1次注射TE到全部达到无精子的平均时间为108(58～232)天,在此后的连续12个月共592个妇女月避孕效果观察中,有1例怀孕,临床避孕率为98％(Pearl指数为2.02/100妇女年)。停药后,平均188(135～254)天全部受试者的精子密度恢复到用药前水平或高于20×10~6/ml。在用药期间,除预料的血清睾酮升高、促性腺激素(FSH、LH)受抑制、睾丸体积缩小、体重和血红蛋白轻度增加以及2例出现轻度痤疮外,其余检查,包括血脂代谢、肝肾功能、前列腺大小、血压和性功能等均无显著性改变。结果表明,由TE抑制生精作用的男性激素避孕方法具有效果好,可逆和毒副作用小的优点。     

Azoospermia in two brothers with Kartagener syndrome:a family history and diagnosis

0This article describes 2 infertile brothers of asoospermia equally associated with co-existing sinusitis,bronchiectasis,and situs inversus and their family history.These two cases were diagnosed as Kartagener syndrome(KS).The patients were not offspring of kin marriages but their family members with scattered bronchi-pulmouary infections were discovered.No one manifests azoospermia,dextrocardia or situs inversus in the paternal family ex-cept two cases reported.No abnormalities were found in their mother-side family.KS should be differentiated from Young's syndrome,cystic fibrosis(CF),and other diseases such as Kallmann's syndrome in male infertility clinic.     

无精子症及严重少精子症患者Y染色体AZF微缺失及点突变的研究

目的通过对无精子症和严重少精子症患者Y染色体AZF微缺失的检测,确定AZF微缺失的发生率及高发位点;同时,对正常生育男性、无精子症及严重少精子症患者进行sY254、sY255点突变检测,从分子水平探讨精子发生的机制,建立基因型与表型的关系。方法多重PCR技术对Y染色体上AZF 4个区域内的15个序列标签位点进行微缺失检测,采用SSCP方法进行sY254、sY255点突变检测;结果无精子症和严重少精子症患者Y染色体AZF微缺失率分别为9.80%和9.68%,显著高于少精子症组的3.34%(P<0.05);其中sY152、sY239、sY243、sY254、sY255在Y染色体上的位置相互毗邻,其联合缺失39例,占总缺失率的65.0%,AZFb+AZFd+AZFc联合缺失的有8人,占总缺失的13.3%;本研究中,正常生育男性、无精子症及严重少精子症患者均未发现sY254、sY255的点突变。结论Y染色体AZF微缺失是导致无精子症和严重少精子症的重要因素,sY152、sY239、sY243、sY254、sY255联合缺失是AZF的缺失热点;未发现sY254、sY255点突变。     

At what age should we attempt to retrieve sperm from males with Klinefelter syndrome

Klinefelter syndrome (KS) is a common disorder and almost every clinician in almost every sub-specialty of medicine will knowingly or unwittingly treat boys or men with a 47,XXY chromosomal constitution. Although there are numerous aspects of KS worthy of discussion, this contribution will focus specifically on the controversial, and as yet unresolved, issue of whether it is advantageous to harvest testis tissue from peri-pubertal or adolescent boys with KS in a heroic effort to preserve that child’s chances of reproduction in his future adult life. What would be the rationale for that, how does the biology of spermatogenesis in the Klinefelter testis impact that decision, and what does the data show? The answer, assembled from a selection of seemingly disparate sources and directions, appears to be “No”. We do not have to advocate for an aggressive approach, we do not have to preemptively preserve future fertility. We can justifiably wait until adulthood with equivalent chances of success.     

不育患者Y染色体AZF微缺失的分析

目的探讨Y染色体上AZF区域微缺失与男性不育的关系。方法采用多重PCR技术,对20例不育患者AZF4个区的l5个序列标签位点（STS）进行了微缺失检测和细胞遗传学检查。结果20例患者中共有3例发现微缺失（15%）。结论AZF微缺失是导致男性不育的重要原因之一,细胞遗传学检查与AZF微缺失无相关性。     

两种TESA方法在腮腺炎致无精子症患者取精中的比较

目的探讨腮腺炎致无精症患者两种睾丸活检取精（TESA）即开放性睾丸活检和显微切割睾丸活检取精的优劣。方法每组24例患者,分别用开放性睾丸活检和显微切割睾丸活检取精,观察取精成功率、术后并发症发生率,术后并发症包括术后血肿的形成,术后3月睾丸萎缩、睾酮下降。结果开放性睾丸活检取精组,能找到活动的精子14例,取精成功率58．3％,术后并发症10例,约41．7％,分别为血肿2例、三月后睾丸萎缩3例、睾酮下降5例;显微切割睾丸活检取精组,能找到活动的精子18例,取精成功率75％,术后并发症5例,约20．8％,分别为血肿0例、三月后睾丸萎缩1例、睾酮下降4例。取精成功率和开放性睾丸活检取精组比较（P〈0．05）,术后并发症和开放性睾丸活检取精组此较（P〈0．01）。结论显微切割睾丸活检取精较开放手术睾丸活检取精成功率高、术后并发症少,值得推广。     

The relationship between methylenetetrahydrofolate reductase c.677TT genotype and oligozoospermia in infertile male patients living in the Trakya region of Turkey

Methylenetetrahydrofolate reductase (MTHFR), the key enzyme of the folate metabolic pathway, has been reported to be five times more active in the testicles compared to other organs in adult mice. The aim of this study was to investigate the relationship between MTHFR c.677C>T and c.1298A>C polymorphisms and infertility in nonobstructive azoospermic and oligozoospermic male patients living in the Trakya region of Turkey. The study population included 75 nonobstructive azoospermic and 62 oligozoospermic, nonconsanguineous patients who were referred to the Department of Medical Genetics of Trakya University between 01.03.2012 and 01.06.2013 due to infertility and who had been diagnosed based on clinical examinations and spermiograms. All of the patients had a normal karyotype without a Y chromosome microdeletion. Melting curve analysis with labelled probes and primers that were designed by the manufacturers and the real‐time polymerase chain reaction method were used. The MTHFR c.677TT genotype frequency in the oligozoospermic infertile male patient group was greater than that of the fertile control group [odds ratio (OR) = 2.675 (95% CI: 0.979–7.305), (P < 0.048)]. The MTHFR c.677TT genotype may be a genetic risk factor for oligozoospermic infertile male patients who live in the Trakya region of Turkey.     

卵子激活剂对无精子症患者冻融睾丸精子ICSI后妊娠结局的影响

目的研究卵子激活剂CultActive在临床中能否提高无精子症患者冻融睾丸精子行卵胞浆内单精子显微注射(ICSI)后的妊娠结局。方法选择2015年1月~2019年12月我院收治的188例行冻融睾丸精子ICSI助孕治疗的无精子症患者作为研究对象,按照患者ICSI后是否进行应用卵子激活剂CultActive随机分为冻融睾丸精子组(n=107)和卵子激活组(n=81),对照组为新鲜睾丸精子组(n=129),分别比较了三组患者在年龄、不孕年限、促性腺激素用量、促性腺激素使用天数等临床资料的差异以及获卵数、受精率、2PN率、分裂率、优胚率、可利用胚胎率、临床妊娠率等胚胎发育情况的差异。结果三组患者在年龄、不孕年限、促性腺激素用量、促性腺激素使用天数、获卵数上均无统计学差异(P>0.05)。B组在2PN率、优胚率、可利用胚胎率上均高于A、C组,但无统计学差异(P>0.05)。三组患者在分裂率上也无统计学差异(P>0.05)。B组在受精率上明显高于C组(P<0.05),且显著高于A组(p<0.01)。B组在临床妊娠率上显著高于A、C组(p<0.01)。结论卵子激活剂CultActive可以提高冻融睾丸精子ICSI效率,值得在临床中推广。     

经直肠超声实时引导在精囊镜手术中的应用研究

目的:探讨经直肠超声实时引导在射精管梗阻性无精子症或少弱精子症患者精囊镜手术中的应用价值。方法:回顾性分析2011年9月至2015年12月北京大学第三医院经直肠超声实时引导行精囊镜手术治疗的25例射精管梗阻性无精子症或少弱精子症患者的临床资料。患者年龄(29.4±4.5)岁;精液量0.4(0～2.8)ml,精液pH值6...