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Recent advances in the genetics of testicular failure

Asian Journal of Andrology 2016年第3期18卷 350-355页

作者： Seung-Hun Song Koji Chiba Ranjith Ramasamy Dolores J Lamb Center for Reproductive Medicine Baylor College of Medicine Houston Texas USA Scott Department of Urology Baylor College of Medicine Houston lexas USA Department of Urology Miller School of Medicine University of Miami FL USA.

Infertility affects approximately 15% of couples, and male factor is responsible for 30%-50% of all infertility. The most severe form of male infertility is testicular failure, and the typical phenotype of testicular failure is severely impaired spermatogenesis resulting in azoospermia or severe oligozoospermia. Although the etiology of testicular failure remains poorly understood, genetic factor typically is an underlying cause. Modern assisted reproductive techniques have revolutionized the treatment of male factor infertility, allowing biological fatherhood to be achieved by many men who would otherwise have been unable to become father to their children through natural conception. Therefore, identifying genetic abnormalities in male is critical because of the potential risk of transmission of genetic abnormalities to the offspring. Recently, along with other intense researches ongoing, whole-genome approaches have been used increasingly in the genetic studies of male infertility. In this review, we focus on the genetics of testicular failure and provide an update on the advances in the study of genetics of male *** affects approximately 15% of couples, and male factor is responsible for 30%-50% of all infertility. The most severe form of male infertility is testicular failure, and the typical phenotype of testicular failure is severely impaired spermatogenesis resulting in azoospermia or severe oligozoospermia. Although the etiology of testicular failure remains poorly understood, genetic factor typically is an underlying cause. Modern assisted reproductive techniques have revolutionized the treatment of male factor infertility, allowing biological fatherhood to be achieved by many men who would otherwise have been unable to become father to their children through natural conception. Therefore, identifying genetic abnormalities in male is critical because of the potential risk of transmission of genetic abnormalities to the offspring. Recentl

关键词： azoospermia genetics male infertility testicular failure

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Comparison of sperm retrieval and reproductive outcome in azoospermic men with testicular failure and obstructive azoospermia treated for infertility

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Asian Journal of Andrology 2014年第4期16卷 602-606页

作者： Sandro C Esteves Christina Prudencio Bill Seol Sidney Verza jr Christopher Knoedler Ashok Agarwal ANDROFERT Center for Male Reproduction Campinas Brazil Center for Reproductive Medicine The Cleveland Clinic Foundation Cleveland USA.

We assessed the rates of sperm retrieval and intracytoplasmic sperm injection outcomes, including the neonatal profile of infants conceived, in men with testicular failure. Three-hundred and sixty-five men with testicular failure who underwent micro-dissection testicular sperm extraction were included in this study. We compared their outcomes with 40 men with testicular failure who used donor sperm for injections due to failed retrieval, and 146 men with obstructive azoospermia who underwent percutaneous sperm retrieval. The retrieval rate in testicular failure was 41.4%, and the results were lower than the obstructed azoospermia （100%; adjusted odds ratio： 0.033; 95% Ch 0.007-0.164; P 〈 0.001）. Live birth rates after sperm injections were lower in men with testicular failure （19.9%） compared with donor sperm （37.5%; adjusted OR： 0.377 （95% Ch 0.233-0.609, P 〈 0.001）） and obstructive azoospermia （34.2%; adjusted OR： 0.403 （95% CI： 0.241-0.676, P= 0.001）. Newborn parameters of infants conceived were not significantly different among the groups. We concluded that the chances of obtaining sperm on retrieval and achieving a live birth after intracytoplasmic sperm injection （ICSI） are reduced in men with testicular failure. The profile of infants conceived after sperm injection does not seem to be negatively affected by testicular failure.

关键词： infant intracytoplasmic sperm injection obstructive azoospermia pregnancy outcome sperm retrieval testicular failure

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Medical therapy for spermatogenic failure

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Asian Journal of Andrology 2012年第1期14卷 57-60,176页

作者： Ranjith Ramasamy Peter J Stahl Peter N Schlegel Department of Urology Weill Cornell Medical College New York NY 10065 USA

Medical treatment of men with primary spermatogenic failure remains largely ineffective in contrast to those with secondary testicular failure. Treatment has been attempted with a multitude of agents ranging from hormones to nutritional supplements （antioxidants）. While some studies have demonstrated benefit to some treatments, no treatments have consistently demonstrated efficacy nor has it been possible to reliably identify patients likely to benefit. Idiopathic spermatogenic failure likely results from multiple discrete defects in sperm production that are as yet unidentified. A better understanding of these defects will yield more effective treatment options and appropriate triage of patients to specific therapeutic regimens. This review focuses on the rationale and current evidence for hormonal and antioxidant therapy in medical treatment of male infertility, spermatogenic failure in particular. Although empiric medical therapy for spermatogenic failure has been largely replaced by assisted reproductive techniques, both treatment modalities could play a role, oerhaos as combination therapy.

关键词： antioxidant hormones male infertility sperm spermatogenesis spermatogenic failure testicular failure

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