Evidence map›Paper›PMID 39670421›Full record

ArticleAndrology2025

Effects of AZFc (b2/b4, b1/b3, b2/b3, and gr/gr) deletions and primary duplications on the outcomes of the first intracytoplasmic sperm injection treatment cycle: A single-center retrospective cohort study.

Linlin Li, Xiangyin Liu, Xinying Wang, Hongguo Zhang, Ruizhi Liu

Abstract read
In one paragraph

Article in Andrology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1 · What the graph read from it

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Linlin LiReproductive Medicine Center, Prenatal Diagnosis Center, First Hospital of Jilin University, Changchun, China.ORCID 0009-0004-8078-6767
Xiangyin LiuReproductive Medicine Center, Prenatal Diagnosis Center, First Hospital of Jilin University, Changchun, China.
Xinying WangReproductive Medicine Center, Prenatal Diagnosis Center, First Hospital of Jilin University, Changchun, China.
Hongguo ZhangReproductive Medicine Center, Prenatal Diagnosis Center, First Hospital of Jilin University, Changchun, China.
Ruizhi LiuReproductive Medicine Center, Prenatal Diagnosis Center, First Hospital of Jilin University, Changchun, China.

Funding

Science and Technology Department of Jilin Province, China 20210502001ZP
6 · The paper itself

Abstract

backgroundCurrent advances in high-throughput sequencing technology enable the precise identification of Y chromosome microdeletion and primary duplication in infertile couples, but the mechanism and clinical significance of these mutations in assisted reproductive techniques remain unclear.

objectivesTo investigate the effects of AZFc (b2/b4, b1/b3, b2/b3, and gr/gr) deletions and primary duplications on the outcomes of the first intracytoplasmic sperm injection (ICSI) treatment cycle.

methodsY chromosome microdeletions and primary duplications in infertile men were detected using next-generation sequencing (NGS) technology. A total of 813 patients undergoing their first ICSI treatment were divided into six groups: b2/b4 deletion group (n = 28), three partial AZFc subdeletion groups (b1/b3, n = 13; b2/b3, n = 72; gr/gr, n = 71), primary AZFc duplication group (n = 54), and control group with a normal Y chromosome (n = 575). The multivariate logistic regression analyses were conducted to assess and compare the embryologic and cumulative reproductive outcomes of ICSI treatment across these groups.

resultsCompared with the control group, the b2/b4 deletion group showed a poor ICSI embryologic outcome after ICSI treatment, with a significantly lower fertilization rate per oocytes retrieval (72.22% vs.79.89%; adjusted odds ratio [OR], 0.63; 95% confidence interval [CI], 0.45-0.88, p < 0.01) and 2 pronuclear (2PN) fertilization rate (66.37% vs. 74.80%; adjusted OR, 0.65; 95% CI, 0.47-0.89, p < 0.01) either before or after adjustment for confounding factors. Nevertheless, three partial AZFc deletion groups showed no effect on the ICSI fertilization rate after ICSI treatment. The primary AZFc duplication group had a significantly lower clinical pregnancy rate per transferred embryo (56.25% vs. 65.97%; adjusted OR, 0.64; 95% CI, 0.41-0.99, p < 0.05), and the semen characteristics varied from azoospermia to normozoospermia. In addition, all indicators related to embryo quality, clinical pregnancy, and live birth outcomes in the primary duplication group were inferior to those in the control group.

conclusionThis study indicates that b2/b4 deletion has a negative effect on ICSI outcomes, particularly the fertilization rates. Partial AZFc deletions have no significant effect on the fertilization rate after ICSI treatment. Primary AZFc duplication can lead to varying seminal phenotypes and has a negative effect on ICSI embryologic and pregnancy outcomes, particularly showing a significant association with low birth weight in newborns after ICSI treatment.

Indexed as

Chromosomes, Human, YInfertility, MaleSex Chromosome Disorders of Sex DevelopmentSperm Injections, IntracytoplasmicAdultChromosome DeletionFemaleGene DuplicationHumansMalePregnancyPregnancy RateRetrospective StudiesSex Chromosome AberrationsTreatment Outcomecumulative reproductive outcomesintracytoplasmic sperm injectionnext‐generation sequencingpartial AZFc deletionprimary AZFc duplication

Identifiers

PMID39670421
PMCPMC12476223

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