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Son The Trinh,1 Nhat Ngoc Nguyen,1 Hien Thi Thu Le,2 Hanh Thi My Pham,2 Sang Tien Trieu,3 Ngoc Thao My Tran,4 Hung Sy Ho,5 Danh Van Tran,6 Tam Van Trinh,2 Hiep Trong Hoang Nguyen,2 Ngoc Pham Minh,2 Trinh Duc Dang,7 Viet Huu Dinh,2 Hang Thi Doan1 1Military Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi, Vietnam; 2Department of Andrology, Andrology and Fertility Hospital of Hanoi, Hanoi, Vietnam; 3Department of Biology and Genetics, Vietnam Military Medical University, Hanoi, Vietnam; 4Department of Life Sciences, Biosciences Division, College of Health, Medicine and Life Sciences, Brunel University London, Uxbridge, UK; 5Department of Obstetrics and Gynecology, Hanoi Medical University, Hanoi, Vietnam; 6Respiratory Center, Military Hospital 103, Vietnam Military Medical University, Hanoi, Vietnam; 7Faculty of Mathematics and Computer Science, Vietnam Military Medical University, Hanoi, VietnamCorrespondence: Hang Thi Doan, Military Institute of Clinical Embryology and Histology, Vietnam Military Medical University, Hanoi, 12108, Vietnam, Email Doanthihang@vmmu.edu.vn Viet Huu Dinh, Andrology and Fertility Hospital of Hanoi, Hanoi, 100000, Vietnam, Email Vietdh@afhanoi.comBackground: The Y chromosome has a specific region, namely the Azoospermia Factor (AZF) because azoospermia is typically reported in the microdeletion of the AZF region. This study aims to assess the characteristics of AZF microdeletion after screening a massive number of low sperm concentration men; and the Microdissection testicular sperm extraction (mTESE) outcomes for retrieving sperm from azoospermic patients.Materials and Methods: This retrospective multiple-center study enrolled a total of 1121 men with azoospermia, cryptozoospermia, and severe oligozoospermia from December 2016 to June 2022. An extension analysis used a total of 17 STSs to detect the position-occurring microdeletion in the AZF region (AZFa, b, c, and/or d loci). Microdissection testicular sperm extraction (mTESE) was performed to retrieve sperm in azoospermic men diagnosed AZFc microdeletion.Results: One hundred and fifty-three men carried AZF microdeletion were detected in the 1121 participants (13.64%). The incidences of AZF microdeletion were confined to AZF a, c, and d regions, both individual and concurrence, with the most common in the AZFc region accounting for 49.67%; There was no significant difference in clinical and paraclinical characteristics between the deleted regions, except FSH level (highest in AZFa microdeletion, p = 0.043). The AZFc region was the most common type of AZF microdeletion (49.67%), including complete microdeletion (4 patients) and gr/gr partial microdeletion (39 patients) with 50.00% and 63.63% in the success rate of mTESE, separately.Conclusion: The absence of AZFa and/or AZFb regions often express the most severe phenotype – azoospermia and the increasing FSH level. The AZFc region played the most common microdeletion. Microdissection testicular sperm extraction (mTESE) was the possible therapy for sperm retrieval from the testis of azoospermia men having AZFc microdeletion.Keywords: Y chromosome microdeletion, AZF microdeletion, azoospermia, mTESE |
