Volume 15, Issue 11 (11-2017)                   IJRM 2017, 15(11): 703-712 | Back to browse issues page


XML Persian Abstract Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Gholami D, Jafari-Ghahfarokhi H, Nemati-Dehkordi M, Teimori H. Y chromosome microdeletions frequency in idiopathic azoospermia, oligoasthenozoospermia, and oligospermia. IJRM 2017; 15 (11) :703-712
URL: http://ijrm.ir/article-1-902-en.html
1- Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran
2- Department of Gynecology, Medical Faculty, Shahrekord University of Medical Sciences, Shahrekord, Iran
3- Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran. , hteimori@skums
Abstract:   (3613 Views)
Background: Genetic factors are candidates for about 30% of male infertility with sperm production-related abnormalities. Y chromosome microdeletions are responsible for around 10% of male infertility. These microdeletions generally occur in azoospermia factor on the Yq. That is often associated with the quantitative reduction of sperm.
Objective: The aim of this cross-sectional study was to determine the frequency of Yq microdeletions among idiopathic azoospermic, oligoasthenozoospermic, and oligospermic men in Shohada infertility center, Chaharmahal va Bakhtiari province.
Materials and Methods: A total of 81 idiopathic azoospermic, oligoasthenozoospermic, and oligospermic infertile men were selected as cases and 81 fertile men assigned to control group. For molecular investigations, 13 sequence-tagged site markers were chosen from azoospermia factor (AZF) region for detection of Y chromosome microdeletions and amplified by two separate multiplex-polymerase chain reaction. The relationship between the AZF microdeletions and incidence of male infertility in the family, consanguineous parents, smoking, and the levels of reproductive hormones among infertile men were investigated.
Results: The total frequency of the microdeletions was 6.17% (2 cases in azoospermic, 3 cases in oligoasthenozoospermic subgroups, and none in the oligospermic participants and the control group). Most deletions (3.7%) were seen in the AZFb followed by the AZFc (2.46%) and none in AZFa. No significant association was seen between the microdeletions and clinical characteristics.
Conclusion: Although the frequency of Yq chromosome microdeletions in Chaharmahal va Bakhtiari province is lower than the mean frequency of Iran, the frequency is comparable to those reported by some studies in Iran.
Full-Text [PDF 555 kb]   (1154 Downloads) |   |   Full-Text (HTML)  (540 Views)  
Type of Study: Original Article |

References
1. Pryor JL, Kent-First M, Muallem A, Van Bergen AH, Nolten WE, Meisner L, et al. Microdeletions in the Y chromosome of infertile men. N Engl J Med 1997; 336: 534-539. [DOI:10.1056/NEJM199702203360802]
2. Zaimy MA, Kalantar SM, Sheikhha MH, Jahaninejad T, Pashaiefar H, Ghasemzadeh J, et al. The frequency of Yq microdeletion in azoospermic and oligospermic Iranian infertile men. Iran J Reprod Med 2013; 11: 453-458.
3. Agarwal A, Mulgund A, Hamada A, Chyatte MR. A unique view on male infertility around the globe. Reprod Biol Endocrinol 2015; 13: 37. [DOI:10.1186/s12958-015-0032-1]
4. Zhang YS, Dai RL, Wang RX, Zhang ZH, Fadlalla E, Liu RZ. Azoospermia factor microdeletions: occurrence in infertile men with azoospermia and severe oligozoospermia from China. Andrologia 2014; 46: 535-540. [DOI:10.1111/and.12117]
5. Balkan M, Tekes S, Gedik A. Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey. J Assist Reprod Genet 2008; 25: 559-565. [DOI:10.1007/s10815-008-9272-8]
6. Khabour OF, Fararjeh AS, Alfaouri AA. Genetic screening for AZF Y chromosome microdeletions in Jordanian azoospermic infertile men. Int J Mol Epidemiol Genet 2014; 5: 47-50.
7. Suganthi R, Vijesh VV, Vandana N, Fathima Ali Benazir J. Y choromosomal microdeletion screening in the workup of male infertility and its current status in india. Int J Fertil Steril 2014; 7: 253-266.
8. Kim MJ, Choi HW, Park SY, Song IO, Seo JT, Lee HS. Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men. J Assist Reprod Genet 2012; 29: 539-546. [DOI:10.1007/s10815-012-9748-4]
9. Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Revi 2001; 22: 226-239. [DOI:10.1210/er.22.2.226]
10. Ferlin A, Moro E, Rossi A, Dallapiccola B, Foresta C. The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet 2003; 40: 18-24. [DOI:10.1136/jmg.40.1.18]
11. Suganya J, Kujur SB, Selvaraj K, Suruli MS, Haripriya G, Samuel CR. Y Chromosome Microdeletions and Partial AZFc Deletions in Infertile Men from South India. British J Med Med Res 2016; 13: 1-10.Y chromosome microdeletions and infertility International Journal of Reproductive BioMedicine Vol. 15. No. 11. pp: 703-712, November 2017 711
12. Liu XY, Wang RX, Fu Y, Luo LL, Guo W, Liu RZ. Outcomes of intracytoplasmic sperm injection in oligozoospermic men with Y chromosome AZFb or AZFc microdeletions. Andrologia 2017; 49: doi: 10.1111/and.12602. [DOI:10.1111/and.12602]
13. Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, et al. Defining regions of the Y-dentification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection. Mol Reprod Dev 1999; 53: 27-41. https://doi.org/10.1002/(SICI)1098-2795(199905)53:1<27::AID-MRD4>3.0.CO;2-W [DOI:10.1002/(SICI)1098-2795(199905)53:13.0.CO;2-W]
14. Ceylan GG, Ceylan C, Elyas H. Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: a prospective study. Genet Mol Res 2009; 8: 915-922. [DOI:10.4238/vol8-3gmr616]
15. Gonçalves C, Cunha M, Rocha E, Fernandes S, Silva J, Ferraz L, et al. Y-chromosome microdeletions in nonobstructive azoospermia and severe oligozoospermia. Asian J Androl 2017; 19: 338-345. [DOI:10.4103/1008-682X.172827]
16. Krausz C, Hoefsloot L, Simoni M, Tüttelmann F. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state‐of‐the‐art 2013. Andrology 2014; 2: 5-19. [DOI:10.1111/j.2047-2927.2013.00173.x]
17. Mozdarani H, Ghoraeian P. Efficient combined FISH and PRINS technique for detection of DAZ microdeletion in human sperm. J Assist Reprod Genet 2012; 29: 979-984. [DOI:10.1007/s10815-012-9805-z]
18. Saito K, Miyado M, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, et al. Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification. J Hum Genet 2015; 60: 127-131. [DOI:10.1038/jhg.2014.115]
19. Olson M, Hood L, Cantor C, Botstein D. A common language for physical mapping of the human genome. Science 1989; 245: 1434-1435. [DOI:10.1126/science.2781285]
20. Lange J, Skaletsky H, Bell GW, Page DC. MSY Breakpoint Mapper, a database of sequence-tagged sites useful in defining naturally occurring deletions in the human Y chromosome. Nucleic Acids Res 2008; 36: 809-814. [DOI:10.1093/nar/gkm849]
21. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of the art 2004. Int J Androl 2004; 27: 240-249. [DOI:10.1111/j.1365-2605.2004.00495.x]
22. Krausz C, Hoefsloot L, Simoni M, Tüttelmann F. European Academy of Andrology; European Molecular Genetics Quality Network. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. Andrology 2014; 2: 5-19. [DOI:10.1111/j.2047-2927.2013.00173.x]
23. Li D, Zhang H, Wang R, Zhu H, Li L, Liu R. Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China. J Assist Reprod Genet 2012; 29: 829-836. [DOI:10.1007/s10815-012-9783-1]
24. Mitra A, Dada R, Kumar R, Gupta NP, Kucheria K, Gupta SK. Screening for Y-chromosome microdeletions in infertile Indian males: utility of simplified multiplex PCR. Indian J Med Res 2008; 127: 124-132.
25. Chellat D, Rezgoune ML, McElreavey K, Kherouatou N, Benbouhadja S, Douadi H, et al. First study of microdeletions in the Y chromosome of Algerian infertile men with idiopathic oligo-or azoospermia. Urol Int 2013; 90: 455-459. [DOI:10.1159/000347046]
26. Stahl PJ, Masson P, Mielnik A, Marean MB, Schlegel PN, Paduch DA. A decade of experience emphasizes that testing for Y microdeletions is essential in American men with azoospermia and severe oligozoospermia. Fertil steril 2010; 94: 1753-1756. [DOI:10.1016/j.fertnstert.2009.09.006]
27. Pina-Neto JM, Carrara RC, Bisinella R, Mazzucatto LF, Martins MD, Sartoratto E, et al. Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men. Braz J Med Biol Res 2006; 39: 555-561. [DOI:10.1590/S0100-879X2006000400017]
28. Nakashima M, Koh E, Namiki M, Yoshida A. Multiplex sequence-tagged site PCR for efficient screening of microdeletions in Y chromosome in infertile males with azoospermia or severe oligozoospermia. Arch Androl 2002; 48: 351-358. [DOI:10.1080/01485010290099309]
29. Martinez C, Mar C, Azcarate M, Pascual P, Aritzeta J, Lopez-Urrutia A. Sperm motility index: a quick screening parameter from sperm quality analyser-IIB to rule out oligo-and asthenozoospermia in male fertility study. Hum Reprod 2000; 15: 1727-1733. [DOI:10.1093/humrep/15.8.1727]
30. Yousefi-Razin E, Nasiri MJ, Omrani MD. Frequency of Y chromosome microdeletions among Iranian infertile men with azoospermia and severe oligozoospermia: A Meta-analysis. J Reprod Infertil 2016; 17: 208-212.
31. Shahid M, Dhillon VS, Khalil HS, Sexana A, Husain SA. Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients. Eur J Hum Genet 2011; 19: 23-29. [DOI:10.1038/ejhg.2010.151]
32. Saliminejad K, Sadeghi MR, Kamali K, Amirjannati N, Soltanghoraee H, Khorram Khorshid HR. Discrepancy in the frequency of Y chromosome microdeletions among Iranian infertile men with azoospermia and severe oligozoospermia. Genet Test Mol Biomarkers 2012; 16: 931-934. [DOI:10.1089/gtmb.2011.0378]
33. Etemadi K, Amiri I. [Y chromosome microdeletion study in idiopathic infertile men in hamadan fatemieh hospital with multiplex PCR method]. Sci J Hamadan Univ Med Sci 2013; 19: 48-56. (In Persian)
34. Shaveisi-Zadeh F, Davarian K, Movafagh A, Mirfakhraie R, Rostami-Far Z, Alibakhshi R, et al. Cytogenetic abnormalities and Y chromosome microdeletions in azoospermic and oligospermic infertile males from west of Iran. J Paramed Sci 2017; 8: 16-23.
35. Asbagh FA, Sina A, Najmabadi H, Akbari MT, Pourm ATG. Prevalence of Y chromosome microdeletions in Iranian infertile men. Acta Med Iranica 2003; 41: 164-170.
36. Asadi F, Sadighi Gilani MA, Ghaheri A, Roodgar Saffari J, Zamanian M. The prevalence of Y chromosome microdeletions in Iranian infertile men with azoospermia and severe oligospermia. Cell J 2017; 19: 27-33.
37. Motovali-Bashi M, Rezaei Z, Dehghanian F, Rezaei H. Multiplex PCR based screening for micro/partial deletions in the AZF region of Y-chromosome in severe oligozoospermic and azoospermic infertile men in Iran. Iran J Reprod Med 2015; 13: 563-570.
38. Masoudi R, Mazaheri-Asadi L, Khorasani S. Partial and complete microdeletions of Y chromosome in infertile males from south of Iran. Mol Biol Res Commun 2016; 5: 247-255.
39. Torfeh M, Sakhinia E, Hasani H, Ahmadi Aby, Nourizadeh D, Heshmat Y, et al. Molecular analysis and comparison of y chromosome microdeletions in Gholami et al 712 International Journal of Reproductive BioMedicine Vol. 15. No. 11. pp: 703-712, November 2017 tabriz and kashan infertile men with azoospermia and severe oligospermia. Iran J Obstet Gyneocol Infertil 2012; 15: 23-30.
40. Keshvari SM, Taghavi RR, Ashraf H. Evaluating y chromosome microdeletions in infertile men with severe oligozoospermia or azoospermia at Imam Reza Hospital in Mashad. J Reprod Infertil 2011; 4: 259-267.
41. Kalantar S, Dehghani M, Zaimy A, Soleimanian S. Screening of Y-chromosome microdeletion in Iranian infertile men. Int J Reprod Biomed 2011; 9 (Suppl.): 61.
42. Mirfakhraie R, Mirzajani F, Kalantar SM, Montazeri M, Salsabili N, Pourmand GR, et al. High prevalence of AZFb microdeletion in Iranian patients with idiopathic non-obstructive azoospermia. Indian J Med Res 2010; 132: 265-270.
43. Khatami SR, Galehdari H, Rasekh A, Mombeini H, Konar E. Assessment of correlation between androgen receptor CAG repeat length and infertility in infertile men living in khuzestan, Iran. Int J Fertil Steril 2015; 9: 189-196.
44. Sheikhha MH, Zaimy MA, Soleimanian S, Kalantar SM, Rasti A, Golzade M, et al. Multiplex PCR Screening of Y-chromosome microdeletions in azoospermic ICSI candidate men. Iran J Reprod Med 2013; 11: 335338.
45. Omrani MD, Samadzadae S, Bagheri M, Attar K. Y chromosome microdeletions in idiopathic infertile men from West Azarbaijan. Urol J 2009; 3: 38-43.
46. Akbarzadeh Khiavi M, Rahmani SA, Safary A, Nikzad H, Jalili A. Y chromosome microdeletion analysis in nonobstructive azoospermia patients from North West of Iran. Jokull J 2013; 63: 44-53
47. Malekasgar AM, Mombaini H. Screening of'Y'chromosome microdeletions in Iranian infertile males. J Hum Reprod Sci 2008; 1: 2-9. [DOI:10.4103/0974-1208.38973]
48. Krausz C, Forti G, McElreavey K. The Y chromosome and male fertility and infertility. Int J Androl 2003; 26: 70-75. [DOI:10.1046/j.1365-2605.2003.00402.x]
49. Zhu XB, Liu YL, Zhang W, Ping P, Cao XR, Liu Y, et al. Vertical transmission of the Yq AZFc microdeletion from father to son over two or three generations in infertile Han Chinese families. Asian J Androl 2010; 12: 240-246. [DOI:10.1038/aja.2009.63]
50. Page DC, Silber S, Brown LG. Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility. Hum Reprod 1999; 14: 1722-1726. [DOI:10.1093/humrep/14.7.1722]
51. Kühnert B, Gromoll J, Kostova E, Tschanter P, Luetjens CM, Simoni M, et al. Case Report: Natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons. Hum Reprod 2004; 19: 886-888. [DOI:10.1093/humrep/deh186]
52. Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, et al. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab 2007; 92: 762-770. [DOI:10.1210/jc.2006-1981]
53. Fu L, Ding XP, Shen MJ, Li C, Nie SS, Quan Q. [Screening and clinical phenotype analysis of microdeletions of azoospermia factor region on Y chromosome in 1011 infertile men]. Zhonghua yi xue yi chuan xue za zhi 2012; 29: 184-187. (In Chinese)
54. Zheng H-Y, Li Y, Shen FJ, Tong YQ. A novel universal multiplex PCR improves detection of AZFc Y-chromosome microdeletions. J Assist Reprod Genet 2014; 31: 613-620. [DOI:10.1007/s10815-014-0204-5]

Send email to the article author


Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Designed & Developed by : Yektaweb