Articles Tập 67 Số CĐ9-Hội Y học Giới tính 29/07/2026

ASSESSMENT OF REPRODUCTIVE POTENTIAL IN MEN WITH NON-OBSTRUCTIVE AZOOSPERMIA AND CONCOMITANT GENETIC ABNORMALITIES UNDERGOING MICRO-TESE AT HOSPITAL OF POST AND TELECOMMUNICATIONS

Nguyen Van Tuan1,2,3,4, Phung Ngoc Anh2,4, Nguyen Manh Kien2,4, Bach Huy Duong1,2,3,4, Phung Van Trung2,4, Bach Huy Anh2,4
1 Hanoi Medical University
2 Hospital of Post and Telecommunications
3 Trường Đại học Y Hà Nội
4 Bệnh viện Bưu điện
DOI: 10.52163/yhc.v67iCD9.5821
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Abstract

Objective: To evaluate the prevalence and characteristics of genetic abnormalities in men with non-obstructive azoospermia (NOA), and to analyze sperm retrieval and reproductive outcomes following microdissection testicular sperm extraction (micro-TESE) at Hospital of Post and Telecommunications.

Methods: This retrospective descriptive study included 309 patients diagnosed with NOA who underwent micro-TESE at the Center for Assisted Reproduction, Bưu Điện Hospital, between September 2022 and September 2024. Among them, 90 patients with confirmed genetic abnormalities and complete medical records were enrolled for analysis. Evaluated parameters included clinical characteristics, genetic testing results, sperm retrieval rates following micro-TESE, and reproductive outcomes after intracytoplasmic sperm injection (ICSI).

Results: The prevalence of genetic abnormalities among patients with NOA was 29.1%. Sex chromosome abnormalities accounted for 96.7% of cases. Klinefelter syndrome was the most common abnormality (70%), followed by Y chromosome AZFc microdeletions (22.3%). The overall sperm retrieval rate using micro-TESE was 54.4%. The sperm retrieval rate in patients with Klinefelter syndrome and AZFc microdeletions were 54% and 55%, respectively. Among cases with successful sperm retrieval, the cumulative live birth rate following ICSI was 61.2%.

Conclusions: Genetic abnormalities are highly prevalent among men with NOA, predominantly involving sex chromosome abnormalities. Micro-TESE demonstrated favorable efficacy in sperm retrieval and assisted reproductive outcomes in this patient population, particularly in individuals with Klinefelter syndrome and AZFc microdeletions. The combination of micro-TESE and ICSI plays an important role in the management of male infertility associated with genetic abnormalities.

References
[1]
Jarow J et al. The optimal evaluation of the infertile male: AUA best practice statement. Fertility and Sterility, 2011, 95 (2): e1-e8. Google Scholar
[2]
Palermo G et al. Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet, 1992, 340: 17-18. Google Scholar
[3]
Krausz C et al. Genetics of male infertility. Nature Reviews Urology, 2018, 15: 369-384. Google Scholar
[4]
Tüttelmann F et al. Clinical experience with azoospermia. Human Reproduction, 2011, 26 (11): 3150-3159. Google Scholar
[5]
Ramasamy R et al. Structural and functional changes to the testis after conventional versus microdissection testicular sperm extraction. Urology, 2005, 65 (6): 1190-1194. Google Scholar
[6]
Schlegel P.N. Evaluation of male infertility. Minerva Ginecologica, 2009, 61 (4): 261-283. Google Scholar
[7]
Ishikawa T. Surgical recovery of sperm in non-obstructive azoospermia. Asian Journal of Andrology, 2012, 14 (1): 109-115. Google Scholar
[8]
Hopps C.V et al. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Human Reproduction, 2003, 18 (8): 1660-1665. Google Scholar
[9]
Schlegel P.N et al. Diagnosis and treatment of infertility in men: AUA/ASRM guideline part I. Fertility and Sterility, 2021, 115 (1): 54-61. Google Scholar
[10]
Plotton I et al. Klinefelter syndrome and TESE-ICSI. Ann Endocrinol (Paris), 2014, 75 (2): 118-25. doi: 10.1016/j.ando.2014.04.004. Google Scholar
[11]
Fullerton G et al. Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009? Human Reproduction, 2010, 25 (3): 588-597. Google Scholar
[12]
Bernie A.M et al. Comparison of microdissection testicular sperm extraction, conventional TESE, and testicular aspiration for nonobstructive azoospermia: a systematic review and meta-analysis. Fertility and Sterility, 2015, 104 (5): 1099-1103. Google Scholar
[13]
Ramasamy R et al. Successful fertility treatment for Klinefelter’s syndrome. Journal of Urology, 2009, 182 (3): 1108-1113. Google Scholar
[14]
Kamp C et al. High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Molecular Human Reproduction, 2001, 7 (10): 987-994. Google Scholar
[15]
Okada H et al. Age as a limiting factor for successful sperm retrieval in Klinefelter syndrome. Fertility and Sterility, 2005, 84 (6): 1662-1664. Google Scholar
[16]
Simoni M et al. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. International Journal of Andrology, 2004, 27 (4): 240-249. Google Scholar
[17]
Practice Committee and Genetic Counseling Professional Group of the American Society for Reproductive Medicine, American Society for Reproductive Medicine. Indications and management of preimplantation genetic testing for monogenic conditions: a committee opinion. Fertility and Sterility, 2023, 120 (1): 61-70. doi: 10.1016/j.fertnstert.2023.03.003. Google Scholar