title: Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia.
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.
authors.affiliation: Department of Biology, CICECO, University of Aveiro, Campus Universitário de Santiago, 3810-193 Aveiro, Portugal.|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, Portugal and Multidisciplinary Unit for Biomedical Research, ICBAS-UP, Portugal.
authors.forename: Carolina
authors.initials: C
authors.lastname: Goncalves
authors.affiliation: Centre for Reproductive Genetics Prof. Alberto Barros, Av. do Bessa, 240, 1° Dto. Frente, 4100-009 Porto, Portugal.
authors.forename: Mariana
authors.initials: M
authors.lastname: Cunha
authors.affiliation: Department of Microscopy, Laboratory of Histology and Embryology, ICBAS-UP, Rua Jorge Viterbo Ferreira, 228, 4050-313 Porto, Portugal.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Rocha
authors.affiliation: Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal and Institute for Innovation and Health Research (I3S), University of Porto, Portugal.
authors.forename: Susana
authors.initials: S
authors.lastname: Fernandes
authors.affiliation: Centre for Reproductive Genetics Prof. Alberto Barros, Av. do Bessa, 240, 1° Dto. Frente, 4100-009 Porto, Portugal.
authors.forename: Joaquina
authors.initials: J
authors.lastname: Silva
authors.affiliation: Department of Urology, Hospital Center of Vila Nova de Gaia, Rua Conceição Fernandes, 4430-502 Vila Nova de Gaia, Portugal.
authors.forename: Luís
authors.initials: L
authors.lastname: Ferraz
authors.affiliation: Centre for Reproductive Genetics Prof. Alberto Barros, Av. do Bessa, 240, 1° Dto. Frente, 4100-009 Porto, Portugal.
authors.forename: Cristiano
authors.initials: C
authors.lastname: Oliveira
authors.affiliation: Centre for Reproductive Genetics Prof. Alberto Barros, Av. do Bessa, 240, 1° Dto. Frente, 4100-009 Porto, Portugal.|Department of Genetics, Faculty of Medicine, University of Porto, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal and Institute for Innovation and Health Research (I3S), University of Porto, Portugal.
authors.forename: Alberto
authors.initials: A
authors.lastname: Barros
authors.affiliation: 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, Portugal and Multidisciplinary Unit for Biomedical Research, ICBAS-UP, Portugal.
authors.forename: Mário
authors.initials: M
authors.lastname: Sousa
mesh_terms: D053713:Azoospermia / Q000235:genetics* / Q000473:pathology; D001706:Biopsy; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D002970:Cleavage Stage, Ovum; D005260:Female; D005306:Fertilization; D006801:Humans; D007231:Infant, Newborn; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology; D009865:Oocytes; D011247:Pregnancy; D011256:Pregnancy Outcome; D011379:Prognosis; D012189:Retrospective Studies; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics*; D020554:Sperm Injections, Intracytoplasmic; D013737:Testis / Q000473:pathology; D055815:Young Adult