Document Detail

ESX1 gene expression as a robust marker of residual spermatogenesis in azoospermic men.
MedLine Citation:
PMID:  20356899     Owner:  NLM     Status:  MEDLINE    
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. RESULTS: The 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.
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
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-03-31
Journal Detail:
Title:  Human reproduction (Oxford, England)     Volume:  25     ISSN:  1460-2350     ISO Abbreviation:  Hum. Reprod.     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-05-20     Completed Date:  2010-08-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8701199     Medline TA:  Hum Reprod     Country:  England    
Other Details:
Languages:  eng     Pagination:  1398-403     Citation Subset:  IM    
Department of Medicine, Surgery and Dentistry, Medical Genetics Unit, Università degli Studi di Milano, 20142 Milano, Italy.
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MeSH Terms
Azoospermia / genetics*
Biological Markers
DNA Methylation / genetics
Gene Expression
Homeodomain Proteins / genetics*
Promoter Regions, Genetic / genetics
Reverse Transcriptase Polymerase Chain Reaction
Sperm Motility / genetics
Sperm Retrieval
Spermatogenesis / genetics*
Reg. No./Substance:
0/Biological Markers; 0/ESX1 protein, human; 0/Homeodomain Proteins

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