Microdeletions and vertical transmission of the Y-chromosome azoospermia factor region

Deng, Chenyao; Zhang, Zhe; Tang, Wenhao; Jiang, Hui

doi:10.4103/aja2021130

Cited by 11 publications

(4 citation statements)

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“…In particular, deletions in the AZF (azoospermia factor) region are frequently observed in men with infertility, and these genetic abnormalities can be transmitted on to offspring via ICSI. 75 , 76 , 77 , 78 , 79 Furthermore, it has been reported that AZF deletions can expand or cause new de novo deletions during the genetic transmission process via ICSI. 80 , 81 , 82 , 83 , 84 ICSI has become a widely used technique, despite the unresolved issue of potential transmission of AZF microdeletions to subsequent generations.…”

Section: Continuation Of Opinions and Discussion On Icsimentioning

confidence: 99%

Evolution of intracytoplasmic sperm injection: From initial challenges to wider applications

Asada

2024

Reprod Medicine & Biology

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BackgroundIn vitro fertilization (IVF) has revolutionized infertility treatment. Nevertheless, male infertility requires more effective solutions. In 1992, the first‐ever case of human birth via intracytoplasmic sperm injection (ICSI) was reported. ICSI involves microscopically injecting a sperm into an ovum. Successful ICSI has become a reliable therapy for couples facing infertility, a significant milestone. However, it has also introduced various challenges. This study also delves into ethical dilemmas arising from widespread ICSI use.MethodsThis review traces the history of ICSI, presenting pioneering attempts, first successful attempts, and critical reports on account of the initial skepticism toward the technology. The review also focuses on chronological progress until ICSI was recognized as effective and became widely applied.Main findingsThe review reveals that ICSI, although transformative, presents challenges. Successes include addressing male infertility and aiding fertilization. However, concerns arise regarding optimal sperm and embryo selection, genetic mutations, and long‐term health implications. Ethical considerations surrounding ICSI's broad applications also surface.ConclusionsDespite its success and effectiveness, ICSI is still evolving as a therapeutic method. By comprehensively evaluating the historical progress and the current status of ICSI and exploring its future prospects, this study highlights the importance of ICSI in infertility treatment.

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Section: Continuation Of Opinions and Discussion On Icsimentioning

confidence: 99%

Evolution of intracytoplasmic sperm injection: From initial challenges to wider applications

Asada

2024

Reprod Medicine & Biology

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“…Spermatogenic failure, clinically known as oligozoospermia, cryptozoospermia, or azoospermia, can result from the AZFc microdeletion. But some patients' testicles still go through the entire spermatogenic process [18]. It is possible that patients with AZFc deletions respond effectively to AI therapy because spermatogenic tissue is still present in their testicles.…”

Section: Discussionmentioning

confidence: 99%

Efficacy of Aromatase Inhibitors for Azoospermia Caused by AZFc Microdeletion: A Cross-Sectional Descriptive Research Study in Chinese Population

Zhang

Liu

et al. 2023

Andrologia

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Background. Aromatase inhibitors (AIs) can significantly improve semen parameters in infertile men. In this study, we investigated the efficacy of AIs for azoospermia in a Chinese population with AZFc microdeletion. Aims. Patients with AZFc microdeletion who were treated with AIs were analyzed retrospectively by collecting clinical data, including their hormone profile and treatment outcome. Patients were divided into those with sperm in their semen after AI treatment (group A) and those without sperm in their semen after AI treatment (group B). Results. The rate of Y chromosome AZF microdeletions was 9.30% (313/3364) from March 2015 to March 2021, among which patients with complete AZFc microdeletion accounted for 63.2% (198/313), and of the 198 patients with AZFc microdeletion, 69.7% (138/198) showed azoospermia. Forty-six (33.3%) of the azoospermic patients had sperm in their semen after AI administration. Testosterone (T) and testosterone-to-estradiol ratio (T/E2) levels were higher in group A than those in group B after treatment, and the differences were significant (T, P = 0.038 ; T/E2, P = 0.004 ). Paired t -test demonstrated that the change of T levels before and after treatment was statistically significant ( P = 0.003 ). The increased E2 and T/E2 ratio levels before and after treatment were not statistically significant ( P = 0.057 and 0.080), but they were close to the threshold value ( P = 0.05 ). Conclusions. Patients with AZFc microdeletion accounted for the largest proportion of male infertility caused by Y chromosome microdeletions. AIs can promote spermatogenesis in azoospermic patients with AZFc microdeletion, and sperm could be found in the semen of some patients after AI administration. T and T/E2 levels after AI treatment could be used as biomarkers to distinguish azoospermic patients with AZFc microdeletion who responded better to AIs from those who did not respond well.

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“…Little evidence supports a correlation between increased paternal age and the incidence of chromosome anomalies. Although some studies demonstrated an increased risk of congenital abnormalities with advanced paternal age, such as unbalanced complements, inherited reciprocal translocations, and down syndrome, the incidence of severe non-chromosomal congenital disabilities, especially those arising from new autosomal mutations, also increases with paternal age due to impaired sperm function [138]. The experience gathered from various micromanipulation methods of gametes, including zona-opening procedures, subzonal sperm insertion, and sperm microinjection into the ooplasm, have demonstrated not only their clinical utility in assisted fertilization but also suggests the potential for selective application of these techniques and their combinations in the treatment of male infertility.…”

Section: Genetic and Epigenetic Considerations: Risk Of Transmission ...mentioning

confidence: 99%

Bridging the Gap: Animal Models in Next-Generation Reproductive Technologies for Male Fertility Preservation

Aponte,

Gutierrez-Reinoso,

Garcia-Herreros

2023

Life

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This review aims to explore advanced reproductive technologies for male fertility preservation, underscoring the essential role that animal models have played in shaping these techniques through historical contexts and into modern applications. Rising infertility concerns have become more prevalent in human populations recently. The surge in male fertility issues has prompted advanced reproductive technologies, with animal models playing a pivotal role in their evolution. Historically, animal models have aided our understanding in the field, from early reproductive basic research to developing techniques like artificial insemination, multiple ovulation, and in vitro fertilization. The contemporary landscape of male fertility preservation encompasses techniques such as sperm cryopreservation, testicular sperm extraction, and intracytoplasmic sperm injection, among others. The relevance of animal models will undoubtedly bridge the gap between traditional methods and revolutionary next-generation reproductive techniques, fortifying our collective efforts in enhancing male fertility preservation strategies. While we possess extensive knowledge about spermatogenesis and its regulation, largely thanks to insights from animal models that paved the way for human infertility treatments, a pressing need remains to further understand specific infertility issues unique to humans. The primary aim of this review is to provide a comprehensive analysis of how animal models have influenced the development and refinement of advanced reproductive technologies for male fertility preservation, and to assess their future potential in bridging the gap between current practices and cutting-edge fertility techniques, particularly in addressing unique human male factor infertility.

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Microdeletions and vertical transmission of the Y-chromosome azoospermia factor region

Cited by 11 publications

References 78 publications

Evolution of intracytoplasmic sperm injection: From initial challenges to wider applications

Evolution of intracytoplasmic sperm injection: From initial challenges to wider applications

Efficacy of Aromatase Inhibitors for Azoospermia Caused by AZFc Microdeletion: A Cross-Sectional Descriptive Research Study in Chinese Population

Bridging the Gap: Animal Models in Next-Generation Reproductive Technologies for Male Fertility Preservation

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