• PMID: 28361989
• Gene Name: THG1L
• Condition: Hypospermatogenesis
• Association: Associated
• Population size: 6
• Population details: 6 (3 controls, 3 Klienfelter syndrome
• Sex: Male
• Infertility type: Male infertility
• Associated genes: Microarray

Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis

D'Aurora M, Ferlin A, Garolla A, Franchi S, D'Onofrio L, Trubiani O, Palka G, Foresta C, Stuppia L, Gatta V.

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. FAU - D'Aurora, Marco AU - D'Aurora M AD - Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, "G.d'Annunzio" University, Via Dei Vestini 31, 66100, Chieti, Italy. AD - Functional Genetics Unit, Center of Excellence on Aging (Ce.S.I.), Via Dei Vestini 31, 66100, Chieti, Italy. FAU - Ferlin, Alberto AU - Ferlin A AD - Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Via Giustiniani 2, 35128, Padova, Italy. FAU - Garolla, Andrea AU - Garolla A AD - Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Via Giustiniani 2, 35128, Padova, Italy. FAU - Franchi, Sara AU - Franchi S AD - Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, "G.d'Annunzio" University, Via Dei Vestini 31, 66100, Chieti, Italy. AD - Functional Genetics Unit, Center of Excellence on Aging (Ce.S.I.), Via Dei Vestini 31, 66100, Chieti, Italy. FAU - D'Onofrio, Laura AU - D'Onofrio L AD - Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, "G.d'Annunzio" University, Via Dei Vestini 31, 66100, Chieti, Italy. AD - Functional Genetics Unit, Center of Excellence on Aging (Ce.S.I.), Via Dei Vestini 31, 66100, Chieti, Italy. FAU - Trubiani, Oriana AU - Trubiani O AD - Department of Oral Health and Biotechnological Sciences, School of Medicine and Health Sciences, "G.d'Annunzio" University, Via DeiVestini 31, 66100, Chieti, Italy. FAU - Palka, Giandomenico AU - Palka G AD - Department of Oral Health and Biotechnological Sciences, School of Medicine and Health Sciences, "G.d'Annunzio" University, Via DeiVestini 31, 66100, Chieti, Italy. FAU - Foresta, Carlo AU - Foresta C AD - Department of Medicine, Unit of Andrology and Reproductive Medicine, University of Padova, Via Giustiniani 2, 35128, Padova, Italy. FAU - Stuppia, Liborio AU - Stuppia L AD - Department of Psychological, Health and Territorial Sciences, School of Medicine and Health Sciences, "G.d'Annunzio" University, Via Dei Vestini 31, 66100, Chieti, Italy. AD - Functional Genetics Unit, Center of Excellence on Aging (Ce.S.I.), Via Dei Vestini 31, 66100, Chieti, Italy.