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非梗阻性无精子症和严重少精子症中的Y染色体微缺失

Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia.

作者信息

Goncalves Carolina, Cunha Mariana, Rocha Eduardo, Fernandes Susana, Silva Joaquina, Ferraz Luís, Oliveira Cristiano, Barros Alberto, Sousa Mário

机构信息

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.

出版信息

Asian J Androl. 2017 May-Jun;19(3):338-345. doi: 10.4103/1008-682X.172827.

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.

摘要

本研究的目的是呈现接受卵胞浆内单精子注射(ICSI)治疗的Y染色体微缺失患者的治疗结果,这些患者使用的是新鲜(睾丸精子提取术[TESE])或冻融(TESE-C)睾丸精子以及射出精子(EJAC)。本研究的独特之处在于对不同类型的Y微缺失(AZFa、AZFb和AZFc)与治疗方法进行了比较,并详细分析了人口统计学、刺激、胚胎学、临床和新生儿(NB)结局。在125例Y染色体微缺失患者中,33例表现为严重少精子症(18例使用射出精子进行ICSI),92例为分泌性无精子症(65例接受TESE,其中40例成功获取精子并进行ICSI)。有51个TESE治疗周期和43个TESE-C治疗周期,共出生19例新生儿(2例在AZFa/TESE-C组,12例在AZFc/TESE组,5例在AZFc/TESE-C组)。在29个EJAC周期中,有8例新生儿出生(在AZFc组)。在TESE和EJAC周期中,胚胎学和临床参数无显著差异。在TESE-C周期中,AZFb组的卵母细胞成熟率、胚胎分裂率和平均移植胚胎数显著较低,而AZFc组的平均卵母细胞数较高,受精率较低。总之,尽管AZFc微缺失患者的睾丸精子回收率较高且临床结局可接受,但AZFa和AZFb微缺失患者的预后较差。由于微缺失具有遗传性,应告知患者其对新生儿不育的影响以及使用植入前基因诊断进行性别选择的可能性。

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本文引用的文献

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Clinical genetic testing for male factor infertility: current applications and future directions.
Andrology. 2014 May;2(3):339-50. doi: 10.1111/j.2047-2927.2014.00200.x. Epub 2014 Apr 7.
2
Chromosomal abnormality in men with impaired spermatogenesis.
Int J Fertil Steril. 2014 Apr;8(1):35-42. Epub 2014 Mar 9.
6
Y chromosome AZFc microdeletion may not affect the outcomes of ICSI for infertile males with fresh ejaculated sperm.
J Assist Reprod Genet. 2013 Jun;30(6):813-9. doi: 10.1007/s10815-013-0009-y. Epub 2013 May 30.
8
Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population.
J Assist Reprod Genet. 2013 Mar;30(3):413-22. doi: 10.1007/s10815-013-9933-0. Epub 2013 Jan 24.
9
Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion.
J Assist Reprod Genet. 2012 Aug;29(8):847-53. doi: 10.1007/s10815-012-9798-7. Epub 2012 May 31.
10
Screening for partial AZFa microdeletions in the Y chromosome of infertile men: is it of clinical relevance?
Fertil Steril. 2012 Jul;98(1):43-7. doi: 10.1016/j.fertnstert.2012.03.034. Epub 2012 Apr 25.

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