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Endocrine Abstracts (2015) 37 GP08.02 | DOI: 10.1530/endoabs.37.GP.08.02

ECE2015 Guided Posters Reproduction: Male and endocrine disruptors (8 abstracts)

Deregulation of Sertoli and Leydig cells function in patients with Klinefelter syndrome as evidenced by testis transcriptome analysis

Alberto Ferlin 1 , Marco D’Aurora 2 , Marta Di Nicola 3 , Andrea Garolla 1 , Luca De Toni 1 , Sara Franchi 2 , Giandomenico Palka 4 , Carlo Foresta 1 , Liborio Stuppia 2 & Valentina Gatta 1

1Department of Medicine, University of Padova, Padova, Italy; 2Department of Psychological, Humanities and Territorial Sciences, ‘G.d’Annunzio’ University, Chieti, Italy; 3Department of Experimental and Clinical Sciences, ‘G.d’Annunzio’ University, Chieti, Italy; 4Department of Oral Health and Biotechnological Sciences, ‘G.d’Annunzio’ University, Chieti, Italy.

Background: Klinefelter syndrome (KS) is the most common abnormality of sex chromosomes (47,XXY) and represents the first genetic cause of male infertility. Mechanisms leading to KS testis degeneration are still not completely defined but considered to be mainly the result of germ cells loss. In order to unravel the molecular basis of global testis dysfunction in KS patients, we performed a transcriptome analysis on testis biopsies obtained from six azoospermic non-mosaic KS patients and three control subjects.

Results: The analysis found that, compared to controls, KS patients showed the differential up- and down-expression of 656 and 247 transcripts. The large majority of the deregulated transcripts were expressed by Sertoli cells (SCs) and Leydig cells (LCs). Functional analysis of the deregulated transcripts indicated changes of genes involved in cell death, inflammatory response, lipid metabolism, steroidogenesis, blood-testis-barrier (BTB) formation and maintenance, as well as spermatogenesis failure.

Conclusions: Taken together, the present data highlight the modulation of hundreds of genes in the somatic components the testis of KS patient. The increased LCs steroidogenic function together with the impairment of inflammatory pathways and BTB structure, result in increased apoptosis. These findings might represent a critical roadmap for therapeutic intervention and prevention of KS-related testis failure.

Disclosure: This work was supported by Italian Ministry of Research.

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