title: Clinical evaluation of the infertile male with respect to genetic etiologies.
abstract: Severe male factor infertility may have a presently identifiable genetic basis. Y chromosomal microdeletions (e.g., an AZFc microdeletion), karyotypic anomalies (e.g., Klinefelter Syndrome), and mutations in both alleles of the cystic fibrosis transmembrane conductance regulator (CFTR) gene may be found, depending upon the etiology of the reproductive compromise. Which patients should be tested, what are the tests that can be performed, when should those tests be ordered, and what might a positive outcome mean, are all critically valuable clinical questions for the couple that help guide evaluation and management. It is imperative that they be asked and results discussed prior to any intervention such as testis tissue extraction, microsurgical epididymal sperm aspiration, or intracytoplasmic sperm injection so that the couple can incorporate them in their decisions moving forward vis-à-vis their reproductive choices and options. The role of reproductive medicine clinicians should not be limited to just helping couples establish a pregnancy, but instead be expanded to educating them about the reasons and causes of their reproductive failure that affect not only them as individuals but also may have implications for their offspring.
authors.affiliation: Department of Urology, Boston University School of Medicine, Boston Medical Center, Boston, MA 02118, USA. robert.oates@bmc.org
authors.forename: Robert D
authors.initials: RD
authors.lastname: Oates
mesh_terms: D053713:Azoospermia / Q000175:diagnosis; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005817:Genetic Counseling; D056426:Genetic Loci; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D052801:Male Urogenital Diseases; D010808:Physical Examination; D011995:Recombination, Genetic; D055101:Semen Analysis; D029589:Seminal Plasma Proteins / Q000235:genetics; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000175:diagnosis; D014564:Urogenital Abnormalities / Q000235:genetics; D014649:Vas Deferens / Q000002:abnormalities
chemical_list: D029589:Seminal Plasma Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator