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Volume 19, Issue 3 (May 2017) 19, 338–345; 10.4103/1008-682X.172827
Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia
Carolina Gonçalves1, Mariana Cunha2, Eduardo Rocha3, Susana Fernandes4, Joaquina Silva2, Luís Ferraz5, Cristiano Oliveira2, Alberto Barros6, Mário Sousa7
1 Department of Biology, CICECO, University of Aveiro, Campus Universitário de Santiago, 3810-193 Aveiro; Department of Microscopy, Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar, University of Porto (ICBAS-UP), Rua Jorge Viterbo Ferreira, 228, 4050-313 Porto and Multidisciplinary Unit for Biomedical Research, ICBAS-UP, Portugal
2 Centre for Reproductive Genetics Prof. Alberto Barros, Av. do Bessa, 240, 1° Dto. Frente, 4100-009 Porto, Portugal
3 Department of Microscopy, Laboratory of Histology and Embryology, ICBAS-UP, Rua Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal
4 Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hernani Monteiro, 4200-319 Porto, Portugal and Institute for Innovation and Health Research (I3S), University of Porto, Portugal
5 Department of Urology, Hospital Center of Vila Nova de Gaia, Rua Conceição Fernandes, 4430-502 Vila Nova de Gaia, Portugal
6 Centre for Reproductive Genetics Prof. Alberto Barros, Av. do Bessa, 240, 1° Dto. Frente, 4100-009 Porto; Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hernani Monteiro, 4200-319 Porto, Portugal and Institute for Innovation and Health Research (I3S), University of Porto, Portugal
7 Department of Microscopy, Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar, University of Porto (ICBAS-UP), Rua Jorge Viterbo Ferreira, 228, 4050-313 Porto and Multidisciplinary Unit for Biomedical Research, ICBAS-UP, Portugal
Correspondence: Dr. M Sousa (msousa@icbas.up.pt)
Date of Submission 21-Aug-2015 Date of Decision 26-Sep-2015 Date of Acceptance 23-Dec-2015 Date of Web Publication 23-Feb-2016
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Abstract
The aim of the present work was to present the outcomes of the patients with Y-chromosome microdeletions treated by intracytoplasmic sperm injection (ICSI), either using fresh (TESE) or frozen-thawed (TESE-C) testicular sperm and ejaculated sperm (EJAC). The originality of this work resides in the comparisons between the different types of Y-microdeletions (AZFa, AZFb, and AZFc) and treatments, with detailed demographic, stimulation, embryological, clinical, and newborn (NB) outcomes. Of 125 patients with Y-microdeletions, 33 patients presented severe oligozoospermia (18 performed ICSI with ejaculated sperm) and 92 secretory azoospermia (65 went for TESE with 40 having successful sperm retrieval and performed ICSI). There were 51 TESE treatment cycles and 43 TESE-C treatment cycles, with a birth of 19 NB (2 in AZFa/TESE-C, 12 in AZFc/TESE, and 5 in AZFc/TESE-C). Of the 29 EJAC cycles, there was a birth of 8 NB (in AZFc). In TESE and EJAC cycles, there were no significant differences in embryological and clinical parameters. In TESE-C cycles, there was a significant lower oocyte maturity rate, embryo cleavage rate and mean number of embryos transferred in AZFb, and a higher mean number of oocytes and lower fertilization rate in AZFc. In conclusion, although patients with AZFc microdeletions presented a high testicular sperm recovery rate and acceptable clinical outcomes, cases with AZFa and AZFb microdeletions presented a poor prognosis. Due to the reported heredity of microdeletions, patients should be informed about the infertile consequences on NB and the possibility of using preimplantation genetic diagnosis for female sex selection.
Keywords: intracytoplasmic sperm injection; newborn outcomes; nonobstructive azoospermia; severe oligozoospermia; testicular sperm extraction; Y-chromosome microdeletions
Keywords: intracytoplasmic sperm injection; newborn outcomes; nonobstructive azoospermia; severe oligozoospermia; testicular sperm extraction; Y-chromosome microdeletions
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