International Journal of
Reproductive Biomedicine
Sat, Apr 20, 2024
[Archive]
Volume 19, Issue 2 (February 2021)
IJRM 2021, 19(2): 147-156 |
Back to browse issues page
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Arumugam M, Shetty D P, Kadandale J S, Kumari S N. Y chromosome microdeletion and cytogenetic findings in male infertility: A cross-sectional descriptive study. IJRM 2021; 19 (2) :147-156
URL: http://ijrm.ir/article-1-1564-en.html
URL: http://ijrm.ir/article-1-1564-en.html
Meenakshi Arumugam1 
, Deyyanthody Prashanth Shetty * 2, Jayarama Shanker Kadandale1 , Suchetha Nalilu Kumari3
, Deyyanthody Prashanth Shetty * 2, Jayarama Shanker Kadandale1 , Suchetha Nalilu Kumari3
1- KSHEMA Centre for Genetic Services, Kowdur Sadananda Hegde Medical Academy, Nitte University, Mangalore, Karnataka, India.
2- KSHEMA Centre for Genetic Services, Kowdur Sadananda Hegde Medical Academy, Nitte University, Mangalore, Karnataka, India. , dprashanthshetty@gmail.com
3- Department of Biochemistry, Kowdur Sadananda Hegde Medical Academy, Nitte University, Mangalore, Karnataka, India.
2- KSHEMA Centre for Genetic Services, Kowdur Sadananda Hegde Medical Academy, Nitte University, Mangalore, Karnataka, India. , dprashanthshetty@gmail.com
3- Department of Biochemistry, Kowdur Sadananda Hegde Medical Academy, Nitte University, Mangalore, Karnataka, India.
Abstract: (1860 Views)
Background: Infertility affects about 15% of couples worldwide, and the male factor alone is responsible for approximately 50% of the cases. Genetic factors have been found to play important roles in the etiology of azoospermia and severe oligospermia conditions that affect 30% of individuals seeking treatment at infertility clinics.
Objective: To determine the frequency of chromosomal abnormalities and Y chromosome microdeletion in infertile men.
Materials and Methods: A total of 100 infertile men with abnormal semen parameters were included in this study from 2014 to 2018. Chromosomal analysis was carried out using standard G-banding using Trypsin Giemsa protocol. Multiplex polymerase chain reaction was used to determine the Y microdeletion frequency.
Results: All participants were aged between 22 and 48 yr with a mean and standard deviation of 35.5 ± 5.1. Of the 100 subjects included in the study, three had Klinefelter syndrome-47,XXY, one had balanced carrier translocation-46,XY,t(2;7)(q21;p12), one with the balanced carrier translocation with inversion of Y chromosome 45,XY,der(13;14)(q10;q10),inv(Y), one had polymorphic variant of chromosome 15, one had Yqh-, and another had an inversion of chromosome 9. Y chromosome microdeletion of Azoospermia factor c region was observed in 2% of the cases. To the best of our knowledge, the current study is the first reported case with unique, balanced carrier translocation of chromosome 2q21 and 7p21.
Conclusion: The present study emphasizes the importance of routine cytogenetic screening and Y microdeletion assessment for infertile men, which can provide specific and better treatment options before undergoing assisted reproductive technology during genetic counseling.
Keywords: Chromosome aberrations, Infertility, Chromosome deletion, Polymerase chain reaction, Sequence tagged sites
Type of Study: Original Article |
Subject:
Reproductive Genetics
References
1. Singh A, Agarwal A. The role of sperm chromatin integrity and DNA damage on male infertility. Open Reprod Sci J 2011; 3: 65-71. [DOI:10.2174/1874255601103010065]
2. Massart A, Lissens W, Tournaye H, Stouffs K. Genetic causes of spermatogenic failure. Asian J Androl 2012; 14: 40-48. [DOI:10.1038/aja.2011.67] [PMID] [PMCID]
3. Xie Ch, Chen X, Liu Y, Wu Zh, Ping P. Multicenter study of genetic abnormalities associated with severe oligospermia and non-obstructive azoospermia. J Int Med Res 2018; 46: 107-114. [DOI:10.1177/0300060517718771] [PMID] [PMCID]
4. Kadandale JS, Shetty S, Kulshreshtha PS. Principles & Practice of assisted reproductive technology: Cytogenetics and molecular genetics of male infertility. 1st Ed. New Delhi, India: Jaypee Brothers Medical Publishers; 2013. [DOI:10.5005/jp/books/12151_17]
5. dos Santos AP, Andrade JGR, Cruz Piveta CS, de Paulo J, Guerra-Junior G, de Mello MP, et al. Screening of Y chromosome microdeletions in 46, XY partial gonadal dysgenesis and in patients with a 45, X/46, XY karyotype or its variants. BMC Med Genet 2013; 14: 115-125. [DOI:10.1186/1471-2350-14-115] [PMID] [PMCID]
6. Sen S, Pasi AR, Dada R, Shamsi MB, Modi D. Y chromosome microdeletions in infertile men: Prevalence, phenotypes and screening markers for the Indian population. J Assist Reprod Genet 2013; 30: 413-422. [DOI:10.1007/s10815-013-9933-0] [PMID] [PMCID]
7. Godoy GCS, Borsatto Galera B, Araujo C, Barbosa JS, De Pinho MF, Galera MF, et al. The low prevalence of Y chromosomal microdeletions is observed in the oligozoospermic men in the area of mato grosso state and amazonian region of Brazilian patients. Clin Med Insights Reprod Health 2014; 8: 51-57. [DOI:10.4137/CMRH.S15475] [PMID] [PMCID]
8. Suganthi R, Vijesh VV, Jayachandran S, Benazir JAF. Multiplex PCR based screening for microdeletions in the azoospermia factor region of the Y chromosome in azoospermic and severe oligozoospermic south Indian men. Iran J Reprod Med 2013; 11: 219-226.
9. Sachdeva K, Saxena R, Majumdar A, Chadda S, Verma IC. Use of ethnicity-specific sequence tag site markers for Y chromosome microdeletion studies. Genet Test Mol Biomarkers 2011; 15: 451-459. [DOI:10.1089/gtmb.2010.0159] [PMID]
10. Czepulkowski BH, Rooney DE. Human cytogenetics: A practical approach. 2nd Ed. England: Oxford; 1987.
11. Shaffer LG, McGowan-Jordan J, Schmid M. ISCN 2013: an international system for human cytogenetic nomenclature. Switzerland: Karger Medical and Scientific Publishers; 2013.
12. Simoni M, Bakker E, Eurlings MCM, Matthijs G, Moro E, Muller CR, et al. Laboratory guidelines for the molecular diagnosis of Y-chromosomal microdeletions. Int J Androl 1999; 22: 292-299. [DOI:10.1046/j.1365-2605.1999.00193.x] [PMID]
13. Meenakshi A, Shetty DP, Kumari NS, Kadendale JS. Chromosomal abnormalities of infertile men in a Tertiary Care Teaching Hospital. Sch Acad J Biosci 2017; 5: 842-846.
14. Vicdan A, Vicdan K, Gunalp S, Kence A, Akarsub C, Isik AZ, et al. Genetic aspects of human male infertility: The frequency of chromosomal abnormalities and Y chromosome microdeletions in severe male factor infertility. Eur J Obstet Gynecol Reprod Biol 2004; 117: 49-54. [DOI:10.1016/j.ejogrb.2003.07.006] [PMID]
15. Jyothy A, Kumar KSD, Swarna M, Raja Sekhar M, Uma Devi U, Reddy PP. Cytogenetic investigations in 1843 referral cases of disordered sexual development from andhra pradesh, India. Int J Hum Genet 2002; 2: 55-59. [DOI:10.1080/09723757.2002.11885785]
16. Li LX, Dai HY, Ding XP, Zhang YP, Zhang XH, Ren HY, et al. Investigation of AZF microdeletions in patients with Klinefelter syndrome. Genet Mol Res 2015; 14: 15140-15147. [DOI:10.4238/2015.November.25.2] [PMID]
17. Bonomi M, Rochira V, Pasquali D, Balercia G, Jannini EA, Ferlin A. Klinefelter syndrome (KS): Genetics, clinical phenotype and hypogonadism. J Endocrinol Invest 2017; 40: 123-134. [DOI:10.1007/s40618-016-0541-6] [PMID] [PMCID]
18. Zhang HG, Liu XY, Hou Y, Chen S, Deng S, Liu RZ. Reproductive outcome of a case with familial balanced translocation t(3;6): implications for genetic counseling. Genet Mol Res 2015; 14: 2809-2815. [DOI:10.4238/2015.March.31.11] [PMID]
19. Okten G, Kara N, Tural S, Guven D, Karakusi N. The effect of familial balanced reciprocal translocation t(9;11) (p12;p11.2) to reproductive performance. J Turk Soc Obstet Gynecol 2012; 9: 173-176. [DOI:10.5505/tjod.2012.14227]
20. Sreenivasa G, Malini SS, Kumari P, Dutta UR. Cytogenetic abnormalities in 200 male infertile cases in the southern region of India. Open J Genet 2013; 3: 33-37. [DOI:10.4236/ojgen.2013.32A3005]
21. Suganya J, Kujur SB, Selvaraj K, Suruli MS, Haripriya G, Samuel ChR. Chromosomal abnormalities in infertile men from Southern India. J Clin Diagn Res 2015; 9: GC05-GC10. [DOI:10.7860/JCDR/2015/14429.6247] [PMID] [PMCID]
22. Wang RX, Zhang HG, Pan Y, Zhu JH, Yue FG, Xue LT, et al. Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling. Genet Mol Res 2016; 15: 1-7.
https://doi.org/10.4238/gmr.15048707 [DOI:10.4238/gmr15048948] [PMID]
23. Vozdova M, Oracova E, Kasikova K, Prinosilova P, Rybar R, Horinova V, et al. Balanced chromosomal translocations in men: Relationships among semen parameters, chromatin integrity, sperm meiotic segregation, and aneuploidy. J Assist Reprod Genet 2013; 30: 391-405. [DOI:10.1007/s10815-012-9921-9] [PMID] [PMCID]
24. Engels H, Eggermann Th, Caliebe A, Jelska A, Schubert R, Schüler HM, et al. Genetic counseling in robertsonian translocations der (13; 14): Frequencies of reproductive outcomes and infertility in 101 pedigrees. Am J Med Genet A 2008; 146A: 2611-2616. [DOI:10.1002/ajmg.a.32500] [PMID]
25. Ching ChB, Ko E, Hecht B, Smith M, Sabanegh E. Presentation and treatment of subfertile men with balanced translocations: The cleveland clinic experience. Curr Urol 2012; 6: 37-42. [DOI:10.1159/000338868] [PMID] [PMCID]
26. Pan Y, Zhang HG, Xi QI, Zhang H, Wang RX, Li LL, et al. Molecular microdeletion analysis of infertile men with karyotypic Y chromosome abnormalities. J Int Med Res 2018; 46: 307-315. [DOI:10.1177/0300060517719394] [PMID] [PMCID]
27. Li LL, Peng D, Wang RX, Zhu HB, Wang WJ, Liu RZ. Correlation between chromosomal polymorphisms and male infertility in a Northeast Chinese population. Genet Mol Res 2015; 14: 15435-15443. [DOI:10.4238/2015.November.30.21] [PMID]
28. Kim ShY, Kim HJ, Lee BY, Park SY, Lee HS, Seo JT. Y Chromosome microdeletions in infertile men with non-obstructive azoospermia and severe oligozoospermia. J Reprod Infertil 2017; 18: 307-315.
29. Kihaile PE, Yasui A, Shuto Y. Prospective assessment of Y chromosome microdeletions and reproductive outcome among infertile couples of Japanese and African origin. J Exp Clin Assist Reprod 2005; 2: 9. [DOI:10.1186/1743-1050-2-9] [PMID] [PMCID]
30. Nowier SR, El-sheikh MM, Rasool HA, Ismail S. Prevalence of Y chromosome microdeletion in males with azoospermia and severe oligospermia in Egypt. Res J Med Medical Sci 2009; 4: 189.
31. Abobakr RA, Mostafa RM, Mahmoud SH, Abdallah HY, Ibrahim GH. Detection of azoospermia factor (AZF) microdeletion on Y chromosome in infertile men with azoospermia or severe oligozoospermia. Egypt J Derm Androl 2009; 29: 65-72.
32. Goncalves 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] [PMID] [PMCID]
33. Rani DS, Rajender S, Pavani K, Chaubey G, Rasalkar AA, Gupta NJ, et al. High frequencies of non allelic homologous recombination (NAHR) events at the AZF loci and male infertility risk in Indian men. Sci Rep 2019; 9: 6276-6286. [DOI:10.1038/s41598-019-42690-0] [PMID] [PMCID]
34. Thangaraj K, Gupta NJ, Pavani K, Reddy AG, Subramainan S, Rani DS, et al. Y chromosome deletions in azoospermic men in India. J Androl 2003; 24: 588-597. [DOI:10.1002/j.1939-4640.2003.tb02710.x] [PMID]
35. Swarna M, Ramesh Babu S, Reddy PP. AZFc deletions in idiopathic infertile males from south India. Int J Hum Genet 2003; 3: 1-4. [DOI:10.1080/09723757.2003.11885819]
36. Athalye AS, Madon PF, Naik NJ, Naik DJ, Gavas SS, Dhumal SB, et al. A study of Y chromosome microdeletions in infertile Indian males. Int J Hum Genet 2004; 4: 179-185. [DOI:10.1080/09723757.2004.11885889]
37. Rao L, Babu A, Kanakavalli M, Padmalatha V, Singh A, Singh PK, et al. Chromosomal abnormalities and Y chromosome microdeletions in infertile men with varicocele and idiopathic infertility of South Indian origin. J Androl 2004; 25: 47-53. [DOI:10.1002/j.1939-4640.2004.tb02770.x] [PMID]
38. Kumar R, Dada R, Gupta NP, Kucheria K. Serum FSH levels and testicular histology in infertile men with non obstructive azoospermia and Y chromosome microdeletions. Indian J Urol 2006; 22: 332-336. [DOI:10.4103/0970-1591.29119]
39. Mahanta R, Gogoi A, Roy S, Bhattacharyya IK, Sharma P. Prevalence of azoospermia factor (AZF) deletions in idiopathic infertile males in north-east India. Int J Hum Genet 2011; 11: 99-104. [DOI:10.1080/09723757.2011.11886130]
40. Ambulkar PS, Waghmare JE, Tarnekar AM, Shende MR, Pal AK. A Cytogenetic and molecular analysis of Y chromosome microdeletions in idiopathic cases of human male infertility. Prespect Cytolog Genet 2013; 16: 1-10.
41. Sathyanarayana ShH, Malini SSN. Impact of Y chromosome AZFc subdeletion shows lower risk of fertility impairment in Siddi tribal men, western Ghats, India. Basic Clin Androl 2015; 25: 1-10. [DOI:10.1186/s12610-014-0017-5] [PMID] [PMCID]
Send email to the article author
| Rights and permissions | |
 |
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
