2014-上海交大纽约教会医院-男性不育的遗传学评估_MatthewWOSNITZER

NJA中华男科学杂志National Journal of Andrology Zhonghua Nan Ke Xue Za Zhi 2014，20（2）：99－105http ：//www．androl．cnＲeview Article·专家谈·男性不育的遗传学评估Matthew WOSNITZEＲ1，Fu-jun ZHAO （赵福军）1，2，Philip S．LI （李石华）1（1．Center for Male Ｒeproductive Medicine and Microsurgery ，Department of Urology ，Cornell Institute for Ｒepro-ductive Medicine ，Weill Cornell Medical College ，Cornell University ，The New York Presbyterian Hospital ，New York ，NY 10065，USA ；2．Department of Urology ，The First People＇s Hospital of Shanghai Jiaotong University ，Shanghai 200080，China）Matthew Wosnitzer ，M．D．is an Instructor and Male Ｒeproductive Medicine Fellow in the Department of Urology ，at Weill Cornell Medical College /New York Presbyterian Hospital．Dr．Wosnitzer is a urologist specializing in male infertility ，mi-crosurgical reconstruction ，varicocele ，erectile dysfunction ，and low testosterone issues．Dr．Wosnitzer completed his un-dergraduate studies at Columbia University and medical school at Ｒobert Wood Johnson Medical School in New Jersey ，where he graduated with highest honors （Alpha Omega Alpha ）．Subsequently ，Dr．Wosnitzer completed urology residency in the Department of Urology at Columbia University Medical Center /New York Presbyterian Hospital in New York City．Dr．Wosnitzer has published many peer-reviewed publications and chapters in these areas ，received numerous awards for his work ，and presents consistently at national meetings．Dr．Wosnitzer ＇s research interests include causes of male infertility ，study of microsurgical techniques for vasectomy reversal ，and antibiotic usage patterns for inflatable penile pros-thesis insertion．Dr．Wosnitzer also has conducted clinical and basic researches on the intravesical treatment of BCG-re-fractory non-muscle invasive bladder cancer （docetaxel /nanoparticle albumin-bound paclitaxel ），and systemic platinum-based chemotherapy for advanced bladder cancer．【摘要】无精子症或严重少精子症男性（＜5ˑ106/ml ）在接受治疗之前应通过遗传学检测确定其不育的真正原因。

正确区分梗阻性无精子症（obstructive azoospermia ，OA ）与非梗阻性无精子症（non-obstructive azoospermia ，NOA ）至关重要，因为相比于NOA （睾丸体积小、质地柔软、FSH 水平升高），OA （正常的睾丸功能、睾丸体积以及FSH 水平）的遗传学检测有所不同。

在NOA 患者人群中，病史回顾、体格检查和实验室检测对于遗传学检测方法的选择是必须的，尤其针对原发性睾丸衰竭或先天性低促性腺激素型性腺功能低下症的NOA 患者。

遗传学检测包括由于先天性输精管缺如所致OA 的囊性纤维化跨膜传导调节因子的检测，和针对严重少精子症或NOA 患者的染色体核型分析、Y 染色体微缺失等其他特殊检测方法。

这些遗传学检测能够帮助判定哪些患者适合药物和/或手术治疗。

最新的遗传学分析技术将有助于男性不育的诊断和掌控。

【关键词】男性不育；少精子症；无精子症；梗阻性无精子症；非梗阻性无精子症；遗传学检测中图分类号：Ｒ698+．2文献标志码：A doi ：10．13263/j．cnki．nja．2014．02．001Update of genetic evaluation for male infertilityMatthew WOSNITZEＲ1，Fu-jun ZHAO 1，2，Philip S．LI 11．Center for Male Ｒeproductive Medicine and Microsurgery ，Department of Urology ，Cornell Institute for Ｒeproductive Medicine ，Weill Cornell Medical College ，Cornell University ，The New York Presbyterian Hospital ，New York ，NY 10065，USA ；2．Department of Urology ，The First People ＇s Hospital of Shanghai Jiaotong University ，Shanghai·99·*通讯作者：Matthew Wosnitzer ；Email ：maw7011@med．cornell．edu ；matthew．wosnitzer@gmail．comPhilip S．Li （李石华），Email ：psli@med．cornell．edu200080，China【Abstract】Men with azoospermia or severe oligospermia（＜5ˑ106/ml）should have genetic testing to identify the reason for male infertility before treatment．Identification of obstructive azoospermia（OA）or non-obstructive azoospermia（NOA）is essential be-cause genetic testing differs for OA（which has normal testicular function，testicular volume，and FSH）versus NOA（which has small，soft testes and increased FSH）．Among patients with NOA，history and physical examination along with laboratory testing is required to choose genetic testing specifically for primary testicular failure or congenital hypogonadotropic hypogonadism（HH）．Genetic testing op-tions include cystic fibrosis transmembrane conductance regulator（CFTＲ）testing for men with OA due to congenital absence of the vas，while karyotype，Y chromosome microdeletions（YCMD），and other specific genetic tests may be indicated if patient has severe oligospermia or NOA．These genetic tests help to identify which patients may benefit from medical and/or surgical intervention．The most recent techniques for genetic analysis will improve diagnosis and management of male infertility．Natl J Androl，2014，20（2）：99－105【Key words】male infertility；oligospermia；azoospermia；obstructive azoospermia；non-obstructive azoospermia；genetic analysisCorrespondence to：Matthew Wosnitzer，email：maw7011@med．cornell．edu；matthew．wosnitzer@gmail．comPhilip S．LI，email：psli@med．cornell．eduＲeceived：January14，2014；accepted：January15，2014无精子症或严重少精子症（＜5ˑ106/ml）往往与遗传异常有关。