ESX1 gene expression as a robust marker of residual spermatogenesis in azoospermic men

E. Bonaparte, M. Moretti, G. M. Colpi, F. Nerva, G. Contalbi, L. Vaccalluzzo, S. Tabano, F. R. Grati, G. Gazzano, S. M. Sirchia, G. Simoni, A. Gallina, M. Miozzo

Research output: Contribution to journalArticle


Background It would be of value to identify ongoing spermatogenesis molecular markers which can predict successful sperm recovery in patients with non-obstructive azoospermia undergoing conventional or microsurgical testicular sperm extraction (TESE/microTESE). ESX1 is an X-linked homeobox gene expressed in testis, placenta, brain and lung in humans and specifically in pre-and post-meiotic germ cells of the testis in mice. Methods We investigated the sequence, expression (by RT-PCR) and epigenetic status (by promoter pyrosequencing) of ESX1 in testicular tissue samples, obtained from 81 azoospermic subjects in the context of surgical sperm extraction, to check a possible association between ESX1 alterations and impaired spermatogenesis, as determined by histological analysis. Result SThe ESX1 transcript was detected in 100 of cases diagnosed as obstructive azoospermia (33), hypospermatogenesis (18) and incomplete maturation arrest (MA) (2), and sperm recovery was also successful in 100 of these cases. ESX1 mRNA was also detected in 5 of 6 patients with incomplete Sertoli cell-only syndrome, in 4 of 6 subjects with complete MA but in only 3 of 16 cases of complete Sertoli cell-only syndrome (cSCOS), whereas sperm recovery was successful in 4 of 6, 2 of 6 and 5 of 16 of these patients, respectively. In cases of focal spermatogenesis, ESX1 expression and sperm retrieval were concordant in 14 of 19 (74) cases subjected to TESE, but in only 3 of 11 (27) men who underwent microTESE. With TESE, but not with microTESE, both samples originated from adjacent testicular areas. The pyrosequencing of the ESX1 CpG island revealed methylation levels that were significantly lower in ESX1 expressors when compared with non-expressors. Conclusions ESX1 emerges as a potentially reliable spermatogenesis molecular marker, whose clinical value as a predictor of successful sperm retrieval warrants further studies.

Original languageEnglish
Pages (from-to)1398-1403
Number of pages6
JournalHuman Reproduction
Issue number6
Publication statusPublished - Jun 2010


  • Azoospermia
  • ESX1
  • Sertoli cell-only syndrome
  • Sperm retrieval
  • Spermatogenic markers

ASJC Scopus subject areas

  • Rehabilitation
  • Obstetrics and Gynaecology
  • Reproductive Medicine

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  • Cite this

    Bonaparte, E., Moretti, M., Colpi, G. M., Nerva, F., Contalbi, G., Vaccalluzzo, L., Tabano, S., Grati, F. R., Gazzano, G., Sirchia, S. M., Simoni, G., Gallina, A., & Miozzo, M. (2010). ESX1 gene expression as a robust marker of residual spermatogenesis in azoospermic men. Human Reproduction, 25(6), 1398-1403.