Sperm retrieval, fertilization rates, and clinical outcomes of infertile men with Y chromosome microdeletion A retrospective cohort study.

Baffa J, Karavani G, Akroof B, Kattan MS, Lau S, Jarvi K
Canadian Urological Association journal = Journal de l'Association des urologues du Canada · 2025 · doi:10.5489/cuaj.8879 · PMID:39661191 · PMC11973997
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This retrospective cohort study found that Y chromosome microdeletion does not impair sperm retrieval rates or fertilization outcomes in infertile men, though blastocyst formation and pregnancy trends favored controls without statistical significance.

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This retrospective cohort study evaluated whether Y chromosome microdeletions negatively impact surgical sperm retrieval and subsequent intracytoplasmic sperm injection outcomes in infertile men with azoospermia or severe oligospermia. The researchers compared 19 patients with microdeletions against 97 controls, finding no significant difference in mature sperm retrieval rates or fertilization success between the two groups. Although blastocyst formation and clinical pregnancy rates showed a non-significant trend toward lower values in the microdeletion group, the authors cautioned that these findings require careful interpretation due to the small sample sizes involved. The paper does not explicitly discuss endometriosis or adenomyosis; it was included in the corpus via a keyword match in the upstream search index.

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Abstract

IntroductionWe aimed to explore whether a Y chromosome microdeletion (YCM) confers adverse effects on surgical sperm retrieval potential and intracytoplasmic sperm injection (ICSI) outcomes in men with azoospermia and severe oligospermia.MethodsThis was a retrospective cohort study that included infertile men with azoospermia or severe oligospermia who were evaluated for karyotype analysis and YCM testing at a university-affiliated hospital between 2010 and 2022. Outcomes of microdissection testicular sperm extraction (mTESE) for surgical sperm retrieval were compared between men diagnosed with YCM and the control group, in which no YCM was found. Additionally, patients from each group who underwent in vitro fertilization (IVF)-ICSI cycle using ejaculated sperm or surgically retrieved mature spermatozoa were compared regarding their IVF-ICSI cycle outcomes, fertilization rates, cleavage, and blastocyst formation, and clinical pregnancy rates.ResultsA total of 116 azoospermic and oligospermic men who underwent YCM testing were included in the study: 19 with YCM and 97 without. Overall, nine mTESE procedures were performed for patients with YCM and 38 for men from the control group. There were no significant differences between the YCM and control groups in mature sperm retrieval rates (11.1% vs. 26.3%, p=0.663), although a trend towards higher rates of elongated and round spermatids as the most mature germ cell was noted in the YCM group (66.7% vs. 28.9%, p=0.054). Of the 13 men with mature sperm - either ejaculated or surgically retrieved (mTESE) - that had known ICSI cycle outcomes, three men had proven YCMs and 10 controls had no identified YCMs. Basic characteristics were similar between the groups, except for testosterone levels, which were higher in the YCM group (23.0±13.1 vs. 9.4±6.4 nmol/L, p=0.027). Fertilization rates and cleavage rates were similar between the YCM and control groups (42.3% vs. 49.7% and 42.3% vs. 39.3%, p=0.491 and 0.774, respectively). Blastocyst formation rates, and pregnancy rates, while not statistically significant, showed a trend for favorable outcomes in the control group compared to the YCM group (24.1% vs. 7.7%, 72.7% vs. 20.0%, p=0.078 and 0.106, respectively).ConclusionsYCM does not affect sperm retrieval rates. Fertilization and cleavage rates are not impaired by microdeletions, while blastocyst formation rates and clinical pregnancy rates per embryo transfer follow a non-significant trend for unfavorable outcomes in the YCM group. Clinical and embryonic development results should be interpreted with caution, as these groups are relatively small.
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Introduction

We aimed to explore whether a Y chromosome microdeletion (YCM) confers adverse effects on surgical sperm retrieval potential and intracytoplasmic sperm injection (ICSI) outcomes in men with azoospermia and severe oligospermia.

Methods

This was a retrospective cohort study that included infertile men with azoospermia or severe oligospermia who were evaluated for karyotype analysis and YCM testing at a university-affiliated hospital between 2010 and 2022. Outcomes of microdissection testicular sperm extraction (mTESE) for surgical sperm retrieval were compared between men diagnosed with YCM and the control group, in which no YCM was found. Additionally, patients from each group who underwent in vitro fertilization (IVF)-ICSI cycle using ejaculated sperm or surgically retrieved mature spermatozoa were compared regarding their IVF-ICSI cycle outcomes, fertilization rates, cleavage, and blastocyst formation, and clinical pregnancy rates.

Results

A total of 116 azoospermic and oligospermic men who underwent YCM testing were included in the study: 19 with YCM and 97 without. Overall, nine mTESE procedures were performed for patients with YCM and 38 for men from the control group. There were no significant differences between the YCM and control groups in mature sperm retrieval rates (11.1% vs. 26.3%, p=0.663), although a trend towards higher rates of elongated and round spermatids as the most mature germ cell was noted in the YCM group (66.7% vs. 28.9%, p=0.054). Of the 13 men with mature sperm — either ejaculated or surgically retrieved (mTESE) — that had known ICSI cycle outcomes, three men had proven YCMs and 10 controls had no identified YCMs. Basic characteristics were similar between the groups, except for testosterone levels, which were higher in the YCM group (23.0±13.1 vs. 9.4±6.4 nmol/L, p=0.027). Fertilization rates and cleavage rates were similar between the YCM and control groups (42.3% vs. 49.7% and 42.3% vs. 39.3%, p=0.491 and 0.774, respectively). Blastocyst formation rates, and pregnancy rates, while not statistically significant, showed a trend for favorable outcomes in the control group compared to the YCM group (24.1% vs. 7.7%, 72.7% vs. 20.0%, p=0.078 and 0.106, respectively).

Conclusions

YCM does not affect sperm retrieval rates. Fertilization and cleavage rates are not impaired by microdeletions, while blastocyst formation rates and clinical pregnancy rates per embryo transfer follow a non-significant trend for unfavorable outcomes in the YCM group. Clinical and embryonic development results should be interpreted with caution, as these groups are relatively small. Downloads Downloads Published How to Cite Issue Section License You, the Author(s), assign your copyright in and to the Article to the Canadian Urological Association. This means that you may not, without the prior written permission of the CUA: - Post the Article on any Web site - Translate or authorize a translation of the Article - Copy or otherwise reproduce the Article, in any format, beyond what is permitted under Canadian copyright law, or authorize others to do so - Copy or otherwise reproduce portions of the Article, including tables and figures, beyond what is permitted under Canadian copyright law, or authorize others to do so. The CUA encourages use for non-commercial educational purposes and will not unreasonably deny any such permission request. You retain your moral rights in and to the Article. This means that the CUA may not assert its copyright in such a way that would negatively reflect on your reputation or your right to be associated with the Article. The CUA also requires you to warrant the following: - That you are the Author(s) and sole owner(s), that the Article is original and unpublished and that you have not previously assigned copyright or granted a licence to any other third party; - That all individuals who have made a substantive contribution to the article are acknowledged; - That the Article does not infringe any proprietary right of any third party and that you have received the permissions necessary to include the work of others in the Article; and - That the Article does not libel or violate the privacy rights of any third party.

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