title: Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis.
abstract: The main genetic cause of male infertility is represented by the Klinefelter Syndrome (KS), a condition accounting for 3% of all cases of infertility and up to15% of cases of azoospermia. KS is generally characterized by azoospermia; approximately 10% of cases have severe oligozoospermia. Among these, the 30-40% of patients show hypospermatogenesis. The mechanisms leading to adult testis dysfunctions are not completely understood. A microarray transcriptome analysis was performed on testis biopsies obtained from three KS patients with hypospermatogenesis and three control subjects. KS testis showed a differential up- and down-regulation of 303 and 747 transcripts, respectively, as compared to controls. The majority of down-regulated transcripts were involved in spermiogenesis failure and testis morphological defects, whereas up-regulated genes were responsible for testis apoptotic processes. Functional analysis of the transcriptionally altered genes indicated a deregulation in cell death, germ cell function and morphology as well as blood-testis-barrier maintenance and Leydig cells activity. These data support a complex scenario in which spermatogenic impairment is the result of functional and morphological alterations in both germinal and somatic components of KS testis. These findings could represent the basis for evaluating new markers of KS spermatogenesis and potential targets of therapeutic intervention to preserve residual spermatogenesis.
authors.affiliation: Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, "G.d'Annunzio" University, Via Dei Vestini 31, 66100, Chieti, Italy.|Functional Genetics Unit, Center of Excellence on Aging (Ce.S.I.), Via Dei Vestini 31, 66100, Chieti, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: D'Aurora
authors.affiliation: Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Via Giustiniani 2, 35128, Padova, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Ferlin
authors.affiliation: Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Via Giustiniani 2, 35128, Padova, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Garolla
authors.affiliation: Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, "G.d'Annunzio" University, Via Dei Vestini 31, 66100, Chieti, Italy.|Functional Genetics Unit, Center of Excellence on Aging (Ce.S.I.), Via Dei Vestini 31, 66100, Chieti, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Franchi
authors.affiliation: Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, "G.d'Annunzio" University, Via Dei Vestini 31, 66100, Chieti, Italy.|Functional Genetics Unit, Center of Excellence on Aging (Ce.S.I.), Via Dei Vestini 31, 66100, Chieti, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: D'Onofrio
authors.affiliation: Department of Oral Health and Biotechnological Sciences, School of Medicine and Health Sciences, "G.d'Annunzio" University, Via DeiVestini 31, 66100, Chieti, Italy.
authors.forename: Oriana
authors.initials: O
authors.lastname: Trubiani
authors.affiliation: Department of Oral Health and Biotechnological Sciences, School of Medicine and Health Sciences, "G.d'Annunzio" University, Via DeiVestini 31, 66100, Chieti, Italy.
authors.forename: Giandomenico
authors.initials: G
authors.lastname: Palka
authors.affiliation: Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Via Giustiniani 2, 35128, Padova, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Foresta
authors.affiliation: Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, "G.d'Annunzio" University, Via Dei Vestini 31, 66100, Chieti, Italy.|Functional Genetics Unit, Center of Excellence on Aging (Ce.S.I.), Via Dei Vestini 31, 66100, Chieti, Italy.
authors.forename: Liborio
authors.initials: L
authors.lastname: Stuppia
authors.affiliation: Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, "G.d'Annunzio" University, Via Dei Vestini 31, 66100, Chieti, Italy.|Functional Genetics Unit, Center of Excellence on Aging (Ce.S.I.), Via Dei Vestini 31, 66100, Chieti, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Gatta
mesh_terms: D015536:Down-Regulation; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009845:Oligospermia / Q000235:genetics* / Q000378:metabolism; D013737:Testis / Q000378:metabolism*; D059467:Transcriptome; D015854:Up-Regulation