• PMID: 25316452
• Gene Name: ESX1
• Condition: Spermatogenesis, non-obstructive azoospermic
• Association: In TF from NOA patients we found that: (i) ESX1 mRNA level was significantly decreased as the severity of spermatogenic defects increased (ii) the presence of ESX1 mRNA can predict the success of sperm retrieval. In SF from NOA patients we found that: (i
• Population size: 87
• Population details: 87 (70 NOA, 8 with obstructive azoospermic (OA), 9 normozoospermic women)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Spermatogenesis, non-obstructive azoospermic

ESX1 mRNA expression in seminal fluid is an indicator of residual spermatogenesis in non-obstructive azoospermic men

Pansa A, Sirchia SM, Melis S, Giacchetta D, Castiglioni M, Colapietro P, Fiori S, Falcone R, Paganini L, Bonaparte E, Colpi G, Miozzo M, Tabano S.

STUDY QUESTION: Is the presence of ESX1 mRNA in seminal fluid (SF) an indicator of residual spermatogenesis in men with non-obstructive azoospermic (NOA)? SUMMARY ANSWER: ESX1 mRNA in SF is a suitable molecular marker for predicting the presence of residual spermatogenesis in testis. WHAT IS KNOWN ALREADY: ESX1 is an X-linked homeobox gene whose expression in testis is restricted to germ cells. We previously reported, in the testicular biopsies from azoospermic men, a positive correlation between the presence of ESX1 mRNA and residual spermatogenesis. STUDY DESIGN, SIZE, DURATION: We investigated ESX1 mRNA expression in 70 testicular fragments (TF) and 56 (SF) of 70 NOA men. As controls, we analyzed 8 TF from men with obstructive azoospermic (OA) and 9 SF from normozoospermic men. For all patients we considered the histological classification of testis biopsies and the recovery of spermatozoa by surgical procedures. PARTICIPANTS/MATERIALS, SETTING, METHODS: Relative ESX1 mRNA expression was evaluated by quantitative RT-PCR using the ΔΔCt method. The results were compared with the recovery of spermatozoa at surgery. MAIN RESULTS AND THE ROLE OF CHANCE: In TF from NOA patients we found that: (i) ESX1 mRNA level was significantly decreased as the severity of spermatogenic defects increased (P < 0.0001, one-way analysis of variance); (ii) the presence of ESX1 mRNA can predict the success of sperm retrieval (sensitivity: 80%). In SF from NOA patients we found that: (i) ESX1 mRNA was present in 78.5% of NOA men; (ii) the presence of ESX1 mRNA could predict the success of sperm retrieval (sensitivity: 84%). LIMITATIONS, REASONS FOR CAUTION: Spermatozoa were recovered at surgery in 5 out of 12 patients whose SF was negative for ESX1 mRNA expression. We think that discrepancies between molecular and clinical results could be reduced by analyzing more than one ejaculate from each man. WIDER IMPLICATIONS OF THE FINDINGS: The data confirm that the ESX1 transcript in the semen of men with NOA is a suitable molecular marker for predicting the presence of residual foci of spermatogenesis in the testis. The implication of these results is that some patients 'with azoospermia', although having a severe impairment of spermatogenesis, could still maintain residual foci of spermatogenesis in limited areas of the testes, not always recovered by surgery. STUDY FUNDING/COMPETING INTERESTS: This work was supported by the Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico: Ricerca Corrente [grant number RC2014/519-02] to M.M. and from ASM onlus 2010-2011 to M.M. The authors declare that they have no conflict of interest. CI - © The Author 2014. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com. FAU - Pansa, Alessandra AU - Pansa A AD - Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy. FAU - Sirchia, Silvia M AU - Sirchia SM AD - Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy. FAU - Melis, Sara AU - Melis S AD - Urology II Unit - Andrology and Assisted Reproduction, San Paolo Hospital - Università degli Studi di Milano, 20142 Milano, Italy. FAU - Giacchetta, Daniela AU - Giacchetta D AD - Urology II Unit - Andrology and Assisted Reproduction, San Paolo Hospital - Università degli Studi di Milano, 20142 Milano, Italy. FAU - Castiglioni, Mirco AU - Castiglioni M AD - Urology II Unit - Andrology and Assisted Reproduction, San Paolo Hospital - Università degli Studi di Milano, 20142 Milano, Italy. FAU - Colapietro, Patrizia AU - Colapietro P AD - Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy. FAU - Fiori, Stefano AU - Fiori S AD - Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy. FAU - Falcone, Rossella AU - Falcone R AD - Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy. FAU - Paganini, Leda AU - Paganini L AD - Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy. FAU - Bonaparte, Eleonora AU - Bonaparte E AD - Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy. FAU - Colpi, Giovanni AU - Colpi G AD - Urology II Unit - Andrology and Assisted Reproduction, San Paolo Hospital - Università degli Studi di Milano, 20142 Milano, Italy. FAU - Miozzo, Monica AU - Miozzo M AD - Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy Molecular Pathology, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milano 20122, Italy monica.miozzo@unimi.it.