The effects of Y chromosome microdeletions on in vitro fertilization outcomes, health abnormalities in offspring and recurrent pregnancy loss

Golin, Andrew P.; Yuen, Wallace; Flannigan, Ryan

doi:10.21037/tau-19-672

Cited by 16 publications

(9 citation statements)

References 75 publications

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“…Although the effect of AZF deletions on fertilisation rate and embryo quality has been demonstrated in many studies, 34–36 the literature has been contentious on whether they affect miscarriage rates and live birth rates. The findings of our study have disagreed with some previous studies 37,38 and agreed with others 39–41 . Given this continuous inconsistency of results, a prospective multi‐centre study would provide further clarity as to whether these outcomes are affected in AZF‐deleted men compared with AZF‐intact men.…”

Section: Discussioncontrasting

confidence: 92%

The impact of semen parameters on ICSI and pregnancy outcomes in egg recipient cycles with PGT‐A

Grammatis

Pappas²,

Kokkali³

et al. 2023

Andrology

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BackgroundThe egg donation model offers an opportunity to isolate the male factor and evaluate its impact on IVF–intracytoplasmic sperm injection and pregnancy outcomes.ObjectiveTo study the effect of non‐obstructive azoospermia on intracytoplasmic sperm injection and pregnancy outcomes compared with severe oligozoospermia and mild‐to‐moderate oligozoospermia in egg recipient cycles.Materials and methodsThis is a retrospective longitudinal cohort study, including 1594 patients who underwent intracytoplasmic sperm injection in egg recipient cycles with preimplantation genetic testing for aneuploidies. The cohort was divided into three groups: couples with non‐obstructive azoospermia accounting for 479 patients (30%); couples with severe oligozoospermia (sperm number <5 × 106/mL), accounting for 442 patients (27.8%); couples with mild‐to‐moderate oligozoospermia, with sperm number >5 × 106and <15 × 106/mL, accounting for 673 patients (42.2%).ResultsThe fertilisation rate was significantly reduced in the non‐obstructive azoospermia group as compared with the severe oligozoospermia and the mild‐to‐moderate oligozoospermia group: 30.3% versus 63% and 77.3% (p < 0.05). Logistic regression analysis adjusted for confounders highlighted non‐obstructive azoospermia as a negative predictor of obtaining a euploid blastocyst both per injected oocyte and per obtained blastocyst. The miscarriage rate in the non‐obstructive azoospermia group was 11.8%; higher than the severe oligozoospermia and mild‐to‐moderate oligozoospermia groups (7% and 2.7%) (p < 0.05). The live birth rate per embryo transfer (ET) was significantly lower in the non‐obstructive azoospermia group compared with the severe oligozoospermia and the mild‐to‐moderate oligozoospermia group (20.4% vs. 30.3% and 35.4%, p < 0.05). The risk of preterm labour was significantly higher in the non‐obstructive azoospermia group, compared with the severe oligozoospermia and mild‐to‐moderate oligozoospermia group (55.1% vs. 46.8% and 16.1%, p < 0.001), and this difference was observed in both singleton and twin pregnancies.Discussion and conclusionIn our retrospective comparative study, non‐obstructive azoospermia significantly affects early embryonic potential and live birth rates per cycle and per embryo transfer. It is also associated with higher risk of preterm birth. Future prospective multi‐centre studies are needed to highlight the effect of sperm quality on ART and pregnancy outcomes.

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Section: Discussioncontrasting

confidence: 92%

The impact of semen parameters on ICSI and pregnancy outcomes in egg recipient cycles with PGT‐A

Grammatis

Pappas²,

Kokkali³

et al. 2023

Andrology

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“…Non-invasive indicators such as age, testicular size, and reproductive hormones, as well as invasive testicular biopsies, are important in determining the spermatogenic function of the testes before micro-TESE and can assist clinicians and infertile couples in making the best clinical decisions for them [13]. A study suggested that spermatogenic function declines with age in patients with AZFc deletion and that early assisted reproduction or sperm freezing is recommended for patients with AZFc deletion [14]. However, our study focused on NOA patients with AZFc deletion, and the results showed that age did not affect SRR by micro-TESE.…”

Section: Discussionmentioning

confidence: 99%

Effects of age, testicular volume, reproductive hormone, and testicular biopsy on sperm retrieval rate of micro-TESE in NOA patients with AZFc deletion

Deng

Mao

Zhao

et al. 2022

Preprint

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Objective: To investigate whether age, testicular volume, reproductive hormone, and preoperative diagnostic testicular biopsy affected sperm retrieval rate (SRR) in individuals with non-obstructive azoospermia (NOA).Patients and methods: Retrospective analysis of clinical data of NOA patients with AZFc deletion who had microdissection testicular sperm extraction (micro-TESE). The effects of age, testicular volume, FSH, LH, T, and preoperative diagnostic testicular biopsy on SRR were compared cross-sectionally in this group of patients.Results: A total of 181 individuals had their sperm successfully collected and underwent micro-TESE, with an SRR of 67.4 %. The results of micro-TESE were separated into two groups: sperm acquisition and non-sperm acquisition, with no significant variations in age, testicular volume, FSH, LH, and T between the two groups. Binary logistic regression explored the absence of significant effects of age, testicular volume, FSH, LH, and T on sperm acquisition in patients undergoing micro-TESE. Based on whether or not a preoperative diagnostic testicular biopsy was conducted, the above parameters were compared between the two groups. Testicular volume was higher in the group with preoperative diagnostic testicular biopsy than in the group without preoperative diagnostic testicular biopsy, while FSH and T were lower. In the preoperative testicular diagnostic biopsy group, the sperm acquisition and non-acquired sperm groups had SRR of 90.1 % and 65.1 %, respectively, with the sperm acquisition group being significantly higher than the non-acquired sperm group.Conclusion: There is a high probability of successful sperm acquisition in the testis with micro-TESE. In this group of patients, age, testicular volume, FSH, LH, and T may have little bearing on the micro-TESE outcome. In patients whose preoperative diagnostic testicular biopsy revealed no sperm, the probability of obtaining sperm by micro-TESE remained high (65.1%), while negative preoperative diagnostic testicular biopsy results appeared to not influence SRR by micro-TESE.

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“…Y chromosome microdeletions result in deletion of ‘azoospermia factor regions’ of the Y chromosome. Assisted reproductive techniques (ARTs) can be used if some sperm are present, however, if successful, this may result in male children inheriting the father’s genetic defects (Golan et al., 2021).…”

Section: Causation and Risk Factorsmentioning

confidence: 99%

Male infertility

Foster

2023

InnovAiT: Education and inspiration for general practice

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Infertility is estimated to affect 1-in-7 couples living in the UK. An estimated 84% of couples will conceive naturally within a year if they have regular unprotected sex; but those who have been trying to conceive for greater than 3 years without success are less than 25% likely to conceive naturally within the course of the following year. Investigation of infertility in primary care is often focused on the female patient and neglectful of their male partner. However, male factors alone are responsible for 20–30% of couples’ infertility, and in an additional 30–40% of cases a male factor is present in combination with other female factors. An estimated 7% of men are affected by infertility, and the incidence of infertility appears to be increasing in the developed world. This article will address potential causes and how to investigate for them. The article will consider investigation in primary care and secondary care management strategies.

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The effects of Y chromosome microdeletions on in vitro fertilization outcomes, health abnormalities in offspring and recurrent pregnancy loss

Cited by 16 publications

References 75 publications

The impact of semen parameters on ICSI and pregnancy outcomes in egg recipient cycles with PGT‐A

The impact of semen parameters on ICSI and pregnancy outcomes in egg recipient cycles with PGT‐A

Effects of age, testicular volume, reproductive hormone, and testicular biopsy on sperm retrieval rate of micro-TESE in NOA patients with AZFc deletion

Male infertility

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