title: Recent advances in the genetics of testicular failure.
abstract: 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 infertility.
authors.forename: Seung-Hun
authors.initials: SH
authors.lastname: Song
authors.forename: Koji
authors.initials: K
authors.lastname: Chiba
authors.forename: Ranjith
authors.initials: R
authors.lastname: Ramasamy
authors.affiliation: Center for Reproductive Medicine, Baylor College of Medicine, Houston, Texas; Scott Department of Urology, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Dolores J
authors.initials: DJ
authors.lastname: Lamb
mesh_terms: D053713:Azoospermia / Q000235:genetics*; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007018:Hypopituitarism / Q000151:congenital / Q000235:genetics; D007248:Infertility, Male / Q000235:genetics; D017436:Kallmann Syndrome / Q000235:genetics; D007713:Klinefelter Syndrome / Q000235:genetics; D008297:Male; D052801:Male Urogenital Diseases / Q000235:genetics; D009845:Oligospermia / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics; D013733:Testicular Diseases / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics; D014649:Vas Deferens / Q000002:abnormalities