Tóm tắt
Mục tiêu: Khảo sát các bất thường di truyền ở bệnh nhân vô tinh đến khám và điều trị tại Bệnh viện Phụ sản - Nhi Đà Nẵng.
Đối tượng và phương pháp nghiên cứu: Nghiên cứu mô tả cắt ngang gồm 62 bệnh nhân vô tinh đến khám tại Bệnh viện Phụ sản - Nhi Đà Nẵng từ tháng 12/2020 - 9/2023.
Kết quả: Tỉ lệ bất thường di truyền là 11,3% (07/62) bao gồm hội chứng Klinefelter chiếm 3,2% và vi mất đoạn nhiễm sắc thể (NST) Y chiếm 8,1%. Không ghi nhận trường hợp nào vi mất đoạn NST Y ở vùng AZFa và AZFb. Tỉ lệ vi mất đoạn NST Y vùng AZFc, AZFd và AZFc+d lần lượt là 60%, 20% và 20%. Tỉ lệ đa hình NST là 37,1%, trong đó, có 1 trường hợp tăng chiều dài vùng dị nhiễm sắc chất trên cánh dài NST Y (46, XY,Yqh+), chiếm 4,3% (1/23).
Kết luận: Vi mất đoạn NST chiếm tỉ lệ cao nhất trong số các bất thường di truyền. Trong nghiên cứu này, đa hình NST chiếm tỉ lệ tương đối cao .
Tài liệu tham khảo
1. Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ. A de novo paradigm for male infertility. Nat Commun. 2022 Jan 10;13(1):154. doi: 10.1038/s41467-021-27132-8.
2. Agarwal A, Baskaran S, Parekh N, Cho CL, Henkel R, Vij S, Arafa M, Panner Selvam MK, Shah R. Male infertility. Lancet. 2021 Jan 23;397(10271):319-333. doi: 10.1016/S0140-6736(20)32667-2.
3. Andrade, Danilo L., Marina C. Viana, and Sandro C. Esteves. 2021. "Differential Diagnosis of Azoospermia in Men with Infertility" Journal of Clinical Medicine 10, no. 14: 3144. https://doi.org/10.3390/jcm10143144
4. Sha J, Huang G, Zhang B, Wang X, Xu Z, Zhai J. Chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia in Eastern China. Journal of International Medical Research. 2020;48(4). doi:10.1177/0300060519896712.
5. Akbarzadeh Khiavi M, Jalili A, Safary A, Gharedaghchi Z, Mirinezhad SK, Mehdizadeh A, Rahmani SA. Karyotypic abnormalities and molecular analysis of Y chromosome microdeletion in Iranian Azeri Turkish population infertile men. Syst Biol Reprod Med. 2020 Apr;66(2):140-146. doi: 10.1080/19396368.2019.1682083.
6. S Al-Ouqaili MT, Al-Ani SK, Alaany R, Al-Qaisi MN. Detection of partial and/or complete Y chromosome microdeletions of azoospermia factor a (AZFa) sub-region in infertile Iraqi patients with azoospermia and severe oligozoospermia. J Clin Lab Anal. 2022 Mar;36(3):e24272. doi: 10.1002/jcla.24272.
7. Romo-Yáñez J, Sevilla-Montoya R, Pérez-González E, Flores-Reyes J, Laresgoiti-Servitje E, Espino-Sosa S et al. AZFa, AZFb, AZFc and gr/gr Y-chromosome microdeletions in azoospermic and severe oligozoospermic patients, analyzed from a neural network perspective. Cir Cir. 2022;90(2):202-209. English. doi: 10.24875/CIRU.20001058
8. Colaco, S., Modi, D. Genetics of the human Y chromosome and its association with male infertility. Reprod Biol Endocrinol 2018; 16(1):14. https://doi.org/10.1186/s12958-018-0330-5.
9. Iijima M, Shigehara K, Igarashi H, Kyono K, Suzuki Y, Tsuji Y, Kobori Y, Kobayashi H, Mizokami A. Y chromosome microdeletion screening using a new molecular diagnostic method in 1030 Japanese males with infertility. Asian J Androl. 2020 Jul-Aug;22(4):368-371. doi: 10.4103/aja.aja_97_19.
10. Le MT, Nguyen DN, Tam Nguyen TT, Nguyen VQH, Pham CK, Le DD, Cao NT. Should Scrotal Color Doppler Ultrasound Be Routinely Indicated in Fertility Evaluation of Non-Azoospermic Men? Curr Urol. 2020 Dec;14(4):211-218. doi: 10.1159/000499236. Epub 2020 Dec 18.
11. Condorelli R, Calogero AE, La Vignera S. Relationship between Testicular Volume and Conventional or Nonconventional Sperm Parameters. Int J Endocrinol. 2013;2013:145792. doi: 10.1155/2013/145792
12. Arafa MM, Majzoub A, AlSaid SS, El Ansari W, Al Ansari A, Elbardisi Y, Elbardisi HT. Chromosomal abnormalities in infertile men with azoospermia and severe oligozoospermia in Qatar and their association with sperm retrieval intracytoplasmic sperm injection outcomes. Arab J Urol. 2018 March 23;16(1):132-139. doi: 10.1016/j.aju.2017.11.009.
13. Abdulwahid MJ, Al-Attar MS, Mohammed RA. Cytogenetic Investigations and Y-Chromosome Microdeletion Screening in some Infertile Kurdish males In Erbil province/ Iraq. Baghdad Science Journal 2022; 19(6): 1155-1166.
14. Nguyễn Hoài Bắc , Phạm Minh Quân, Nguyễn Cao Thắng. Đặc điểm lâm sang, cận lâm sang của những bệnh nhân nam vô sinh không có tinh trùng. Tạp chí nghiên cứu Y học 2019, 123(7): 147- 157
15. Liu JL, Pena V, Fletcher SA, Kohn TP. Genetic testing in male infertility - reassessing screening thresholds. Curr Opin Urol. 2020;30:317-323.
16. Zhao P, Gu X, Wu H, Deng X. Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China. J Int Med Res. 2019 Mar;47(3):1114-1123. doi: 10.1177/0300060518816253.
17. Kouvidi E, Tsarouha H , Katsidi C. Chromosomal Abnormalitiesin Infertile Greek Men: A Single Institution’s Experience. OBM Genetics 2023; 7(1), doi:10.21926/obm.genet.2301178.
18. Jafari-Ghahfarrokhi H, Gholami D, Esfahani MR et al. The frequency of cytogenetic abnormalities in idiopathic oligospermia and azoospermia infertile men in Chaharmahal and Bakhtiari province: a cross-sectional study. Journal of Shahrekord University of Medical Sciences 2020; 22(1):6-10.
19. Sá R, Ferraz L, Barros A, Sousa M. The Klinefelter Syndrome and Testicular Sperm Retrieval Outcomes. Genes. 2023; 14(3):647. https://doi.org/10.3390/genes14030647.
20. Waseem AS, Singh V, Makker GC, Trivedi S, Mishra G, Singh K, Rajender S. AZF deletions in Indian populations: original study and meta-analyses. J Assist Reprod Genet. 2020 Feb;37(2):459-469. doi: 10.1007/s10815-019-01661-0.
21. Sharma H, Sharma U, Kumar S, Kumar Singh S, Mohan S Mavaduru R, Prasad R. Prevalence of Y chromosome microdeletion in north Indian infertile males with spermatogenesis defect. J Genet. 2021;100:39. Doi: 10.1007/s12041-021-01291-5
22. Damdinsuren E, Naidansuren P, Gochoo M, Choi BC, Choi MY, Baldandorj B. Prevalence of Y chromosome microdeletions among infertile Mongolian men. Clin Exp Reprod Med. 2022 Jun;49(2):101-109. doi: 10.5653/cerm.2021.05099.
23. Elsaid HOA, Gadkareim T, Abobakr T, Mubarak E, Abdelrhem MA, Abu D, Alhassan EA, Abushama H. Detection of AZF microdeletions and reproductive hormonal profile analysis of infertile sudanese men pursuing assisted reproductive approaches. BMC Urol. 2021 Apr 23;21(1):69. doi: 10.1186/s12894-021-00834-3.
24. Curado RM, Gamba BF, Bicudo LAR et al. Karyotype Analysis in Infertile Men from the Center Western Brazil. Hum Reprod Arch. 2022;37:e001018. DOI: 10.4322/hra.001018
25. Nagvenkar P, Desai K, Hinduja I, Zaveri K. Chromosome studies in infertile men with oligospermia and non-obstructive azoospermia. Indian J Med Res. 2005;122:34-42.
26. Suganya J, Kujur SB, Selvaraj K, Suruli MS, Haripriya G, Samuel CR. Chromosomal Abnormalities in Infertile Men from Southern India. J Clin Diagn Res. 2015 Jul;9(7):GC05-10. doi: 10.7860/JCDR/2015/14429.6247.
27. Arumugam M, Shetty DP, Kadandale JS, Kumari SN. Y chromosome microdeletion and cytogenetic findings in male infertility: A cross-sectional descriptive study. Int J Reprod Biomed. 2021 Feb 21;19(2):147-156. doi: 10.18502/ijrm.v19i2.8473.
28. Atl Eİ, Mail Ç, Gürkan H, Yalçıntepe, Demir S, Atlı E. Y chromosome polymorphism in Turkish patients with reproductive problems: a genetic centre experience. Eur Res J 2023;9(4):725-729. DOI: 10.18621/eurj.1130666
29. Minocherhomji S, Athalye AS, Madon PF, Kulkarni D, Uttamchandani S, Parikh FR. A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype. Fertility and Sterility. 2009;92(1):88–95.
30. Ralapanawe MSB, Gajaweera SL, Karunaratne N, Dissanayake VHW, Price MJ, Melo P, Coomarasamy A, Gallos ID. Author Correction: A comprehensive analysis of chromosomal polymorphic variants on reproductive outcomes after intracytoplasmic sperm injection treatment. Sci Rep. 2023 Jun 21;13(1):10099. doi: 10.1038/s41598-023-36732-x.
31. Guo T, Qin Y, Gao X, Chen H, Li G, Ma J, Chen ZJ. The role of male chromosomal polymorphism played in spermatogenesis and the outcome of IVF/ICSI-ET treatment. Int J Androl. 2012 Dec;35(6):802-809. doi: 10.1111/j.1365-2605.2012.01284.x.
32. Racovita S, Mosin V, Capcelea S, Misina A, Sprincean M. Chromosomal abnormalities in men with azoospermia. Moldovan Medical Journal. March 2021;64(1):50-55. DOI: 10.5281/zenodo.4527139.
2. Agarwal A, Baskaran S, Parekh N, Cho CL, Henkel R, Vij S, Arafa M, Panner Selvam MK, Shah R. Male infertility. Lancet. 2021 Jan 23;397(10271):319-333. doi: 10.1016/S0140-6736(20)32667-2.
3. Andrade, Danilo L., Marina C. Viana, and Sandro C. Esteves. 2021. "Differential Diagnosis of Azoospermia in Men with Infertility" Journal of Clinical Medicine 10, no. 14: 3144. https://doi.org/10.3390/jcm10143144
4. Sha J, Huang G, Zhang B, Wang X, Xu Z, Zhai J. Chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia in Eastern China. Journal of International Medical Research. 2020;48(4). doi:10.1177/0300060519896712.
5. Akbarzadeh Khiavi M, Jalili A, Safary A, Gharedaghchi Z, Mirinezhad SK, Mehdizadeh A, Rahmani SA. Karyotypic abnormalities and molecular analysis of Y chromosome microdeletion in Iranian Azeri Turkish population infertile men. Syst Biol Reprod Med. 2020 Apr;66(2):140-146. doi: 10.1080/19396368.2019.1682083.
6. S Al-Ouqaili MT, Al-Ani SK, Alaany R, Al-Qaisi MN. Detection of partial and/or complete Y chromosome microdeletions of azoospermia factor a (AZFa) sub-region in infertile Iraqi patients with azoospermia and severe oligozoospermia. J Clin Lab Anal. 2022 Mar;36(3):e24272. doi: 10.1002/jcla.24272.
7. Romo-Yáñez J, Sevilla-Montoya R, Pérez-González E, Flores-Reyes J, Laresgoiti-Servitje E, Espino-Sosa S et al. AZFa, AZFb, AZFc and gr/gr Y-chromosome microdeletions in azoospermic and severe oligozoospermic patients, analyzed from a neural network perspective. Cir Cir. 2022;90(2):202-209. English. doi: 10.24875/CIRU.20001058
8. Colaco, S., Modi, D. Genetics of the human Y chromosome and its association with male infertility. Reprod Biol Endocrinol 2018; 16(1):14. https://doi.org/10.1186/s12958-018-0330-5.
9. Iijima M, Shigehara K, Igarashi H, Kyono K, Suzuki Y, Tsuji Y, Kobori Y, Kobayashi H, Mizokami A. Y chromosome microdeletion screening using a new molecular diagnostic method in 1030 Japanese males with infertility. Asian J Androl. 2020 Jul-Aug;22(4):368-371. doi: 10.4103/aja.aja_97_19.
10. Le MT, Nguyen DN, Tam Nguyen TT, Nguyen VQH, Pham CK, Le DD, Cao NT. Should Scrotal Color Doppler Ultrasound Be Routinely Indicated in Fertility Evaluation of Non-Azoospermic Men? Curr Urol. 2020 Dec;14(4):211-218. doi: 10.1159/000499236. Epub 2020 Dec 18.
11. Condorelli R, Calogero AE, La Vignera S. Relationship between Testicular Volume and Conventional or Nonconventional Sperm Parameters. Int J Endocrinol. 2013;2013:145792. doi: 10.1155/2013/145792
12. Arafa MM, Majzoub A, AlSaid SS, El Ansari W, Al Ansari A, Elbardisi Y, Elbardisi HT. Chromosomal abnormalities in infertile men with azoospermia and severe oligozoospermia in Qatar and their association with sperm retrieval intracytoplasmic sperm injection outcomes. Arab J Urol. 2018 March 23;16(1):132-139. doi: 10.1016/j.aju.2017.11.009.
13. Abdulwahid MJ, Al-Attar MS, Mohammed RA. Cytogenetic Investigations and Y-Chromosome Microdeletion Screening in some Infertile Kurdish males In Erbil province/ Iraq. Baghdad Science Journal 2022; 19(6): 1155-1166.
14. Nguyễn Hoài Bắc , Phạm Minh Quân, Nguyễn Cao Thắng. Đặc điểm lâm sang, cận lâm sang của những bệnh nhân nam vô sinh không có tinh trùng. Tạp chí nghiên cứu Y học 2019, 123(7): 147- 157
15. Liu JL, Pena V, Fletcher SA, Kohn TP. Genetic testing in male infertility - reassessing screening thresholds. Curr Opin Urol. 2020;30:317-323.
16. Zhao P, Gu X, Wu H, Deng X. Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China. J Int Med Res. 2019 Mar;47(3):1114-1123. doi: 10.1177/0300060518816253.
17. Kouvidi E, Tsarouha H , Katsidi C. Chromosomal Abnormalitiesin Infertile Greek Men: A Single Institution’s Experience. OBM Genetics 2023; 7(1), doi:10.21926/obm.genet.2301178.
18. Jafari-Ghahfarrokhi H, Gholami D, Esfahani MR et al. The frequency of cytogenetic abnormalities in idiopathic oligospermia and azoospermia infertile men in Chaharmahal and Bakhtiari province: a cross-sectional study. Journal of Shahrekord University of Medical Sciences 2020; 22(1):6-10.
19. Sá R, Ferraz L, Barros A, Sousa M. The Klinefelter Syndrome and Testicular Sperm Retrieval Outcomes. Genes. 2023; 14(3):647. https://doi.org/10.3390/genes14030647.
20. Waseem AS, Singh V, Makker GC, Trivedi S, Mishra G, Singh K, Rajender S. AZF deletions in Indian populations: original study and meta-analyses. J Assist Reprod Genet. 2020 Feb;37(2):459-469. doi: 10.1007/s10815-019-01661-0.
21. Sharma H, Sharma U, Kumar S, Kumar Singh S, Mohan S Mavaduru R, Prasad R. Prevalence of Y chromosome microdeletion in north Indian infertile males with spermatogenesis defect. J Genet. 2021;100:39. Doi: 10.1007/s12041-021-01291-5
22. Damdinsuren E, Naidansuren P, Gochoo M, Choi BC, Choi MY, Baldandorj B. Prevalence of Y chromosome microdeletions among infertile Mongolian men. Clin Exp Reprod Med. 2022 Jun;49(2):101-109. doi: 10.5653/cerm.2021.05099.
23. Elsaid HOA, Gadkareim T, Abobakr T, Mubarak E, Abdelrhem MA, Abu D, Alhassan EA, Abushama H. Detection of AZF microdeletions and reproductive hormonal profile analysis of infertile sudanese men pursuing assisted reproductive approaches. BMC Urol. 2021 Apr 23;21(1):69. doi: 10.1186/s12894-021-00834-3.
24. Curado RM, Gamba BF, Bicudo LAR et al. Karyotype Analysis in Infertile Men from the Center Western Brazil. Hum Reprod Arch. 2022;37:e001018. DOI: 10.4322/hra.001018
25. Nagvenkar P, Desai K, Hinduja I, Zaveri K. Chromosome studies in infertile men with oligospermia and non-obstructive azoospermia. Indian J Med Res. 2005;122:34-42.
26. Suganya J, Kujur SB, Selvaraj K, Suruli MS, Haripriya G, Samuel CR. Chromosomal Abnormalities in Infertile Men from Southern India. J Clin Diagn Res. 2015 Jul;9(7):GC05-10. doi: 10.7860/JCDR/2015/14429.6247.
27. Arumugam M, Shetty DP, Kadandale JS, Kumari SN. Y chromosome microdeletion and cytogenetic findings in male infertility: A cross-sectional descriptive study. Int J Reprod Biomed. 2021 Feb 21;19(2):147-156. doi: 10.18502/ijrm.v19i2.8473.
28. Atl Eİ, Mail Ç, Gürkan H, Yalçıntepe, Demir S, Atlı E. Y chromosome polymorphism in Turkish patients with reproductive problems: a genetic centre experience. Eur Res J 2023;9(4):725-729. DOI: 10.18621/eurj.1130666
29. Minocherhomji S, Athalye AS, Madon PF, Kulkarni D, Uttamchandani S, Parikh FR. A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype. Fertility and Sterility. 2009;92(1):88–95.
30. Ralapanawe MSB, Gajaweera SL, Karunaratne N, Dissanayake VHW, Price MJ, Melo P, Coomarasamy A, Gallos ID. Author Correction: A comprehensive analysis of chromosomal polymorphic variants on reproductive outcomes after intracytoplasmic sperm injection treatment. Sci Rep. 2023 Jun 21;13(1):10099. doi: 10.1038/s41598-023-36732-x.
31. Guo T, Qin Y, Gao X, Chen H, Li G, Ma J, Chen ZJ. The role of male chromosomal polymorphism played in spermatogenesis and the outcome of IVF/ICSI-ET treatment. Int J Androl. 2012 Dec;35(6):802-809. doi: 10.1111/j.1365-2605.2012.01284.x.
32. Racovita S, Mosin V, Capcelea S, Misina A, Sprincean M. Chromosomal abnormalities in men with azoospermia. Moldovan Medical Journal. March 2021;64(1):50-55. DOI: 10.5281/zenodo.4527139.
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