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      Successful sperm retrieval by microdissection testicular sperm extraction in a man with partial AZFb deletion: a case report

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          Abstract

          Background

          Y chromosome microdeletion is one of the major causes of male infertility, and obtaining mature spermatozoa in complete azoospermic factor (AZF)b deletion cases is difficult because germ cells maturation has arrested. However, there are very few reports on spermatogenesis in partial deletions of the AZFb region. We herein report a case of partial AZFb deletion in which sperm were successfully recovered by microdissection testicular sperm extraction (micro-TESE).

          Case Description

          A 34-year-old man with cryptozoospermia was referred to Reproduction Center, Yokohama City University Medical Center. Both testicular sizes were normal, and the seminal tract had no abnormalities. Serum testosterone and follicle-stimulating hormone levels were also normal. The karyotype was 46,XY, and the Y chromosomal microdeletion test showed no amplification of the sequence-tagged site marker sY1024, which is the proximal part of the AZFb region. We performed micro-TESE, and subsequently identified and cryopreserved many malformed immotile spermatozoa. Intracytoplasmic sperm injection was performed using frozen-thawed testicular sperm that showed slight mobility, but the embryos rarely reached the good blastocyst stage. Although two frozen-thawed embryo transfers were performed, no pregnancies resulted.

          Conclusions

          In cases of partial AZFb deletion, spermatogenesis may be preserved, and surgical sperm retrieval should be considered even in cases of azoospermia.

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          Most cited references14

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          European Association of Urology Guidelines on Male Sexual and Reproductive Health: 2021 Update on Male Infertility.

          The European Association of Urology (EAU) has updated its guidelines on sexual and reproductive health for 2021.
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            Diagnosis and Treatment of Infertility in Men: AUA/ASRM Guideline Part I

            The summary presented herein represents Part I of the two-part series dedicated to the Diagnosis and Treatment of Infertility in Men: AUA/ASRM Guideline. Part I outlines the appropriate evaluation of the male in an infertile couple. Recommendations proceed from obtaining an appropriate history and physical exam (Appendix I), as well as diagnostic testing, where indicated.
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              Microdeletions in the Y chromosome of infertile men.

              Some infertile men with azoospermia or severe oligospermia have small deletions in regions of the Y chromosome. However, the frequency of such microdeletions among men with infertility in general is unknown. We sought to determine the prevalence of Y-chromosome microdeletions among infertile men and to correlate the clinical presentation of the men with specific deletions. We studied 200 consecutive infertile men. Each man was evaluated comprehensively for known causes of infertility, and Y-chromosome microdeletions were studied with use of the polymerase chain reaction to amplify specific regions of the chromosome. The Y chromosomes of 200 normal men were also analyzed. Fourteen infertile men (7 percent) and four normal men (2 percent) had microdeletions of the Y chromosome. Nine of the infertile men had azoospermia or severe oligospermia (sperm concentration, or = 20 million per milliliter). The size and location of the deletions varied and did not correlate with the severity of spermatogenic failure. The fathers of six infertile men with microdeletions were studied; two had the same deletions as their sons, and four had no deletions. A small proportion of men with infertility have Y-chromosome microdeletions, but the size and position of the deletions correlate poorly with the severity of spermatogenic failure, and a deletion does not preclude the presence of viable sperm and possible conception.

                Author and article information

                Journal
                Transl Androl Urol
                Transl Androl Urol
                TAU
                Translational Andrology and Urology
                AME Publishing Company
                2223-4683
                2223-4691
                22 January 2025
                31 January 2025
                : 14
                : 1
                : 191-195
                Affiliations
                [1]deptDepartment of Urology, Reproduction Center , Yokohama City University Medical Center , Yokohama, Kanagawa, Japan
                Author notes

                Contributions: (I) Conception and design: S Aoki, T Takeshima; (II) Administrative support: T Takeshima; (III) Provision of study materials or patients: S Aoki, T Takeshima, Y Yumura; (IV) Collection and assembly of data: All authors; (V) Data analysis and interpretation: S Aoki, T Takeshima; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors.

                Correspondence to: Teppei Takeshima, MD, PhD, MSc. Department of Urology, Reproduction Center, Yokohama City University Medical Center, Urafune-Cho 4-57, Minami-ku, Yokohama City, Kanagawa #232-0024, Japan. Email: teppeitalia@ 123456gmail.com .
                Author information
                https://orcid.org/0000-0003-2733-5487
                https://orcid.org/0000-0003-0909-478X
                Article
                tau-14-01-191
                10.21037/tau-24-426
                11833528
                5f5738e8-a8e8-40cb-a6bf-dc04846742e2
                Copyright © 2025 AME Publishing Company. All rights reserved.

                Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0.

                History
                : 14 August 2024
                : 06 January 2025
                Categories
                Case Report

                spermatozoa,microdissection testicular sperm extraction (micro-tese),azoospermic factor b partial deletion (azfb partial deletion),y chromosome microdeletion,case report

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