International Journal of Infertility & Fetal Medicine

Register      Login

SEARCH WITHIN CONTENT

FIND ARTICLE

Volume / Issue

Online First

Archive
Volume  15 (2024)
Volume  14 (2023)
Volume  13 (2022)
Volume  12 (2021)
Volume  11 (2020)
Volume  10 (2019)
Volume  9 (2018)
Volume  8 (2017)
Volume  7 (2016)
Volume  6 (2015)
Volume  5 (2014)
Volume  4 (2013)
Volume  3 (2012)
Volume  2 (2011)
Volume  1 (2010)
Related articles

VOLUME 15 , ISSUE 3 ( September-December, 2024 ) > List of Articles

RESEARCH ARTICLE

Frequency of Y Chromosome Microdeletions in Infertile Men Referred to Urology Clinic of Moradi Hospital in Rafsanjan, Iran

Atefeh Nazer, Alireza Nazari, Mojgan Noroozi Karimabad, Fatemeh Asadi, Sadegh Zarei, Reza Hosseiniara, Mohammad Reza Mirzaei

Keywords : Azoospermia, Male infertility, Molecular analysis, Oligospermia, Y chromosome

Citation Information : Nazer A, Nazari A, Karimabad MN, Asadi F, Zarei S, Hosseiniara R, Mirzaei MR. Frequency of Y Chromosome Microdeletions in Infertile Men Referred to Urology Clinic of Moradi Hospital in Rafsanjan, Iran. Int J Infertil Fetal Med 2024; 15 (3):136-140.

DOI: 10.5005/jp-journals-10016-1359

License: CC BY-NC 4.0

Published Online: 30-03-2025

Copyright Statement:  Copyright © 2024; The Author(s).


Abstract

Background and aim: Small deletions in the upper arm of the Y chromosome in the three regions of azoospermia factor c (AZFc), azoospermia factor b (AZFb), and azoospermia factor a (AZFa) are associated with defects in spermatogenesis. It is essential to study the microdeletions of AZF regions due to their inheritance, especially when using assisted reproduction methods. Since a particular phenotype can have different genotypes based on different communities, detecting Y chromosome microdeletions in an infertile man is a good diagnosis. Therefore, this study aimed to detect microdeletions of the Y chromosome in infertile men. Materials and methods: In this case-control study, 42 infertile men were randomly referred to Moradi Hospital, whose infertility was confirmed by spermogram and hormonal tests, as well as clinical examinations and history by a urologist. Six fertile men (who have had children in the last 2 years) working at Rafsanjan University of Medical Sciences, who are age-matched in the case group, were selected as a control group. After completing the personal information questionnaire, 5 mL of blood sample is taken from all individuals. The deoxyribonucleic acid (DNA) of blood from both groups is extracted to examine the micropores of the AZF region of the Y chromosome, and molecular screening is performed using the polymerase chain reaction (PCR) and sequence-tagged site (STS) marker technique, according to the guidelines of the EAA/EMQN Academy of Andrology/European Molecular Genetics Quality Network. Finally, the PCR product is electrophoresed. Results: Among 42 infertile men, 14 showed deletions in the AZFb region and 23 showed deletions in the AZFa region, which are 33.3 and 54.76%, respectively. The results showed that microdeletions of AZF had a significant effect on azoospermia and oligospermia in infertile men. Conclusion: Examination of small deletions on the upper arm of the Y chromosome recommends a practical molecular test to obtain reliable genetic information in men with infertility before using assisted reproductive techniques; this method helps improve the effectiveness of treatment and reduce costs. The findings of this study can be an essential guide when consulting infertile couples, especially before using therapies.

PDF Share
  1. Brugo-Olmedo S, Chillik C, Kopelman S. Definition and causes of infertility. Reprod Biomed Online 2001;2(1):41–53. DOI: 10.1016/s1472-6483(10)62187-6
  2. Kazemijaliseh H, Ramezani Tehrani F, Behboudi-Gandevani S, et al. The prevalence and causes of primary infertility in Iran: a population-based study. Glob J Health Sci 2015;7(6):226. DOI: 10.5539/gjhs.v7n6p226
  3. Merten JA, Shapiro JF, Gulbis AM, et al. Utilization of collaborative practice agreements between physicians and pharmacists as a mechanism to increase capacity to care for hematopoietic stem cell transplant recipients. Biol Blood Marrow Transplant 2013;19(4):509–518. DOI: 10.1016/j.bbmt.2012.12.022
  4. Jungwirth A, Giwercman A, Tournaye H, et al. European Association of Urology guidelines on Male Infertility: the 2012 update. Eur Urol 2012;62(2):324–332. DOI: 10.1016/j.eururo.2012.04.048
  5. Shamsi MB, Kumar K, Dada R. Genetic and epigenetic factors: role in male infertility. Indian J Urol 2011;27(1):110–120. DOI: 10.4103/0970-1591.78436
  6. Joffe M. Infertility and environmental pollutants. Br Med Bull 2003;68(1):47–70. DOI: 10.1093/bmb/ldg025
  7. ÖZAYDIN S, İnsan infertil erkek vakaların semen örneklerinde iyon kanal ekspresyonlarının araştırılması/The investigation of ion channel expressions in semen samples of human infertile male cases. 2017.
  8. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976;34(2):119–124. DOI: 10.1007/BF00278879
  9. Foote S, Vollrath D, Hilton A, et al. The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science 1992;258(5079):60–66. DOI: 10.1126/science.1359640
  10. Vollrath D, Foote S, Hilton A, et al. The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science 1992;258(5079):52–59. DOI: 10.1126/science.1439769
  11. Reijo R, Lee TY, Salo P, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein gene. Nat Genet 1995;10(4):383–393. DOI: 10.1038/ng0895-383
  12. Vogt P, Edelmann A, Hirschmann P, et al. The azoospermia factor (AZF) of the human Y chromosome in Yq11: function and analysis in spermatogenesis. Reprod Fertil Dev 1995;7(4):685–693. DOI: 10.1071/rd9950685
  13. Pryor JL, Kent-First M, Muallem A, et al. Microdeletions in the Y chromosome of infertile men. N Engl J Med 1997;336(8):534–539. DOI: 10.1056/NEJM199702203360802
  14. Reijo R, Alagappan RK, Patrizio P, et al. Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet 1996;347(9011):1290–1293. DOI: 10.1016/s0140-6736(96)90938-1
  15. Foresta C, Ferlin A, Garolla A, et al. High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. Hum Reprod 1998;13(2):302–307. DOI: 10.1093/humrep/13.2.302
  16. Foster JW, Graves JA. An SRY-related sequence on the marsupial X chromosome: implications for the evolution of the mammalian testis-determining gene. Proc Natl Acad Sci U S A 1994;91(5):1927–1931. DOI: 10.1073/pnas.91.5.1927
  17. Lahn BT, Pearson NM, Jegalian K. The human Y chromosome, in the light of evolution. Nat Rev Genet 2001;2(3):207–216. DOI: 10.1038/35056058
  18. Choi DK, Gong IH, Hwang JH, et al. Detection of Y chromosome microdeletion is valuable in the treatment of patients with nonobstructive azoospermia and oligoasthenoteratozoospermia: sperm retrieval rate and birth rate. Korean J Urol 2013;54(2):111–116. DOI: 10.4111/kju.2013.54.2.111
  19. Aknin-Seifer IE, Touraine RL, Lejeune H, et al. A simple, low cost and non-invasive method for screening Y-chromosome microdeletions in infertile men. Hum Reprod 2003;18(2):257–261. DOI: 10.1093/humrep/deg067
  20. Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev 2001;22(2):226–239. DOI: 10.1210/edrv.22.2.0425
  21. Gupta K, Freeman SM. Preimplantation genetic diagnosis for intersex conditions: beyond parental decision making. Am J Bioeth 2013;13(10):49–51. DOI: 10.1080/15265161.2013.828124
  22. Franchim CS, Soares-Junior JM, Serafini PC, et al. Efficacy of MLPA for detection of Y-chromosome microdeletions in infertile Brazilian patients. J Assist Reprod Genet 2020;37(5):1251–1259. DOI: 10.1007/s10815-020-01777-8
  23. Melmed S. Williams Textbook of Endocrinology. 12th ed. Elsevier Health Sciences; 2015.
  24. Legato MJ, Bilezikian JP. Principles of Gender-Specific Medicine. Vol. 2. Gulf Professional Publishing; 2004.
  25. Brodsky D, Ouellette MA. Primary Care of the Premature Infant. Elsevier Health Sciences; 2008.
  26. Cuckow PM, Nyirády P. Embryology of the Urogenital Tract. In: Pediatric Urology. Philadelphia: WB Saunders; 2001. pp. 3–13.
  27. Marwal A, Gaur RK. Molecular Markers: Tool for Genetic Analysis. In: Animal Biotechnology. 2020. Elsevier; pp. 353–372.
  28. Kuliev A, Rechitsky S, Verlinsky O. Atlas of Preimplantation Genetic Diagnosis. CRC Press; 2014.
  29. Akbarzadeh-Khiavi M. Molecular Screening of Y Chromosome Microdeletions in AZFc and AZFd Regions of Non-Obstructive Azoospermic Patients Referred to Alzahra Hospital in Tabriz. KAUMS J (FEYZ) 2014;18(2):122–127.
  30. Liu XG, Hu HY, Guo YH, et al. Correlation between Y chromosome microdeletion and male infertility. Genet Mol Res 2016;15(2). DOI: 10.4238/gmr.15028426
  31. Torres TP, Rojas XB, Narváez MB, et al. Triplex real-time polymerase chain reaction optimization for AZF Y-chromosome microdeletion analysis. JBRA Assist Reprod 2015;19(2):37–43. DOI: 10.5935/1518-0557.20150011
  32. Dada R, Gupta NP, Kucheria K. Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia. J Biosci 2003;28(2):163–168. DOI: 10.1007/BF02706215
  33. Tzschach A, Thamm B, Imthurn B, et al. Absence of Yq microdeletions in infertile men. Arch Androl 2001;47(3):167–171. DOI: 10.1080/014850101753145852
  34. Omrani MD, Samadzadae S, Bagheri M, et al. Y chromosome microdeletions in idiopathic infertile men from West Azarbaijan. Urol J 2006;3(1):38–43. DOI: 10.1038/ncpuro0378
  35. Malekasgar AM, Mombaini H. Screening of ’Y’ chromosome microdeletions in Iranian infertile males. J Hum Reprod Sci 2008;1(1):2–9. DOI: 10.4103/0974-1208.38973
  36. Kuroda S, Usui K, Sanjo H, et al. Genetic disorders and male infertility. Reprod Med Biol 2020;19(4):314–322. DOI: 10.1002/rmb2.12336
  37. Kobayashi K, Mizuno K, Hida A, et al. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum Mol Genet 1994;3(11):1965–1967. DOI: 10.1093/hmg/3.11.1965
  38. Li HG, Ding XF, Zhao JX, et al. Y chromosome microdeletions of 664 Chinese men with azoospermia or severe oligozoospermia. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2008;25(3):252–255. PMID: 18543210.
  39. Mirfakhraie R, Mirzajani F, Kalantar SM, et al. High prevalence of AZFb microdeletion in Iranian patients with idiopathic non-obstructive azoospermia. Indian J Med Res 2010;132:265–270. PMID: 20847372.
  40. Behulova R, Varga I, Strhakova L, et al. Incidence of microdeletions in the AZF region of the Y chromosome in Slovak patients with azoospermia. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2011;155(1):33–38. DOI: 10.5507/bp.2011.006
  41. Güney AI, Javadova D, Kırac D, et al. Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients. Genet Mol Res 2012;11(2):1039–1048. DOI: 10.4238/2012.April.27.2
  42. Gholami Yarahmadi S. Frequency of Y Chromosome Microdeletions in Azoospermic and Oligospermic Iranian Infertile Men. Int J Med Lab 2020;7(2):121–127.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.