title: Genetics of male infertility.
abstract: Genetics play an important role in the evaluation of the infertile male. The current limitations of classifying the genetic contribution to male infertility and the importance of phenotyping men are discussed, and the core concepts necessary to interpret most genetic studies are reviewed. The current genetic assays used clinically are discussed in detail. The use and interpretation of the cystic fibrosis transmembrane receptor assay are examined in the context of men with clinical bilateral absence of the vas deferens, a karyotype and Klinefelter syndrome, and Y chromosome microdeletions. The role of hormones and epigenetics in evaluating the genetic reproductive potential of men is discussed briefly. A summary of what the field might look like in 2034 is presented.
authors.affiliation: Division of Urology, Department of Surgery, School of Medicine, University of Utah, 30 North 1900 East, Salt Lake City, UT 84132, USA. Electronic address: jim.hotaling@gmail.com.
authors.forename: James M
authors.initials: JM
authors.lastname: Hotaling
mesh_terms: D000818:Animals; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D004247:DNA / Q000235:genetics; D057890:Epigenomics; D006062:Gonadotropins / Q000032:analysis; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development; D014649:Vas Deferens / Q000002:abnormalities
chemical_list: D006062:Gonadotropins; D004247:DNA
keywords: CBAVD; Germline mutation; Klinefelter syndrome; Male infertility; Y chromosome microdeletion