MOLECULAR GENETIC AND LABORATORY FINDINGS IN INFERTILE MEN WITH NON-OBSTRUCTIVE AZOOSPERMIA | ||||
| Sohag Medical Journal | ||||
| Article 15, Volume 21, Issue 3, October 2017, Page 119-134 PDF (68.74 K) | ||||
| Document Type: Original Article | ||||
| DOI: 10.21608/smj.2017.36673 | ||||
 View on SCiNiTO | ||||
| Authors | ||||
Kamal Shaeer1; ESSAMELDIN ABDELAZIZ NADA 2; Ramadan Saleh Abdo3; Manal El Hamshary4; Ashraf Ahmed Abd El-Latif5
| ||||
| 1Department , of Andrology, Sexology and STIs- Faculty of Medicine- Cairo University | ||||
| 2DERMATOLOGY, Venereology and Andrology, Faculty of Medicine , sohag university | ||||
| 3Department , of Dermatology, Venereology and Andrology , Faculty of Medicine- , Sohag University | ||||
| 4Department , of Molecular Diagnostics and Therapeutics- Genetic Engineering and Biotechnology Research Institute- Sadat City University. | ||||
| 5Department of Dermatology, Venereology and Andrology- Faculty of Medicine- Sohag University. | ||||
| Abstract | ||||
| Objectives:To study therelationship between Y-chromosome microdeletions withclinicaland laboratory findings in infertile men with non-obstructive azoospermia (NOA). Design: Cross-sectionalstudy. Patients: Infertile men withnon-obstructive azoospermia (n = 146). Methods: Clinical evaluation and scrotal colour Doppler ultrasonography were evaluated. Standard semen analysis andserum levels of hormones(FSH, LH, total testosterone and prolactin) were performed. Multiplex PCR was done for detection of Y chromosome microdeletions. Results:AZF deletions were detected in 9.59% of azoospermic men.CompleteAZFc was detected in 2.05% of azoospermic men.Partial AZFc deletions were found in 7.5% of azoospermic men, with gr/gr deletion in 6.85% and b2/b3 deletion in 0.69%.There was no significant difference between patients with AZF deletions and azoospermic men without deletions as regards testicular volume and serum levels of reproductive hormones. Conclusions:Microdeletions of Y chromosome may play a role in pathogenesis of NOA. The testicular volumes as well as levels of reproductive hormoneswere not correlated with the finding of Y chromosome microdeletions. | ||||
| Keywords | ||||
| non-obstructive azoospermia; Y chromosome microdeletion; testicular biopsy | ||||
|
Supplementary Files
|
||||
| References | ||||
|
1. Aziz N: The importance of semen analysis in the context of azoospermia.Clinics (Sao Paulo). 2013; 68 Suppl 1: 35-8. 2. Esteves SC, Miyaoka R and Agarwal A: An update on the clinical assessment of the infertile male. [corrected].Clinics (Sao Paulo). 2011; 66(4): 691-700. 3. Kumar R: Medical management of non-obstructive azoospermia.Clinics (Sao Paulo). 2013; 68 Suppl 1: 75-9. 4. Hotaling J and Carrell DT: Clinical genetic testing for male factor infertility: current applications and future directions.Andrology. 2014; 2(3): 339-50. 5. Calafell F and Larmuseau MHD: The Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research.Hum Genet. 2017; 136(5): 559-73. 6. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A, Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R, Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R, Mcpherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S, Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP, Waterston RH, Wilson RK, Rozen S and Page DC: The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.Nature. 2003; 423(6942): 825-37. 7. Li Z, Haines CJ and Han Y: "Micro-deletions" of the human Y chromosome and their relationship with male infertility.J Genet Genomics. 2008; 35(4): 193-9. 8. Malekasgar AM and Mombaini H: Screening of 'Y' chromosome microdeletions in Iranian infertile males.J Hum Reprod Sci. 2008; 1(1): 2-9. 9. Suganthi R, Vijesh VV, Vandana N and 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(4): 253-66. 10. Krausz C, Hoefsloot L, Simoni M and Tuttelmann F: EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.Andrology. 2014; 2(1): 5-19. 11. Krausz C and Casamonti E: Spermatogenic failure and the Y chromosome.Hum Genet. 2017; 136(5): 637-655. 12. Silber SJ: The Y chromosome in the era of intracytoplasmic sperm injection: a personal review.Fertil Steril. 2011; 95(8): 2439-48.e1-5. 13. Organization WH: WHO Laboratory Manual for the Examination and Processing of Human Semen, 5th Edition.WHO Press, Geneva, Switzerland. 2010. 14. Tiepolo L and Zuffardi O: Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm.Hum Genet. 1976; 34(2): 119-24. 15. Repping S, Skaletsky H, Brown L, Van Daalen SK, Korver CM, Pyntikova T, Kuroda-Kawaguchi T, De Vries JW, Oates RD, Silber S, Van Der Veen F, Page DC and Rozen S: Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection.Nat Genet. 2003; 35(3): 247-51. 16. El Awady MK, El Shater SF, Ragaa E, Atef K, Shaheen IM and Megiud NA: Molecular study on Y chromosome microdeletions in Egyptian males with idiopathic infertility.Asian J Androl. 2004; 6(1): 53-7. 17. Elhawary N, Seif-Eldin N, Zaki M, Diab H, Teama S and Saleh S: Common Tag STSs in the AZF region associated with azoospermia and severe oligospermia in infertile Egyptian men.Open Androl J. 2010; 2(1): 11-8. 18. Fayez A, El-Sayed A, El-Desouky M, Zarouk W, Kamel A, Fahmi I and El-Ruby M: Molecular characterization of some genetic factors controlling spermatogenesis in Egyptian patients with male infertility. Int J Infertility Fetal Med. 2012; 3(3): 69-77. 19. Hussein TM and Elneely DI: Y-chromosome microdeletions and the MTHFR C677T polymorphism in Egyptian men with nonobstructive azoospermia.Hum Androl. 2014; 4(3): 66-70. 20. Simoni M, Tuttelmann F, Gromoll J and Nieschlag E: Clinical consequences of microdeletions of the Y chromosome: the extended Munster experience.Reprod Biomed Online. 2008; 16(2): 289-303. 21. Masoudi R, Mazaheri-Asadi L and Khorasani S: Partial and complete microdeletions of Y chromosome in infertile males from South of Iran.Mol Biol Res Commun. 2016; 5(4): 247-255. 22. Bansal SK, Jaiswal D, Gupta N, Singh K, Dada R, Sankhwar SN, Gupta G and Rajender S: Gr/gr deletions on Y-chromosome correlate with male infertility: an original study, meta-analyses, and trial sequential analyses.Sci Rep. 2016; 6: 19798. 23. Lu C, Zhang J, Li Y, Xia Y, Zhang F, Wu B, Wu W, Ji G, Gu A, Wang S, Jin L and Wang X: The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population.Hum Mol Genet. 2009; 18(6): 1122-30. 24. Vijesh VV, Nambiar V, Mohammed SI, Sukumaran S and Suganthi R: Screening for AZFc partial deletions in Dravidian men with nonobstructive azoospermia and oligozoospermia.Genet Test Mol Biomarkers. 2015; 19(3): 150-5. 25. Shahid M, Dhillon VS, Khalil HS, Sexana A and 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(1): 23-9. 26. Choi J, Song SH, Bak CW, Sung SR, Yoon TK, Lee DR and Shim SH: Impaired spermatogenesis and gr/gr deletions related to Y chromosome haplogroups in Korean men.PLoS One. 2012; 7(8): e43550. 27. Motovali-Bashi M, Rezaei Z, Dehghanian F and 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(9): 563-70. 28. Wang YM, Li Q, Song LB, Zhang JY, Yang J and Song NH: [Association of the deleted DAZ gene copy related to gr/gr and b2/b3 deletions with spermatogenic impairment].Zhonghua Nan Ke Xue. 2016; 22(1): 17-21. 29. Rozen SG, Marszalek JD, Irenze K, Skaletsky H, Brown LG, Oates RD, Silber SJ, Ardlie K and Page DC: AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes.Am J Hum Genet. 2012; 91(5): 890-6. 30. Giachini C, Laface I, Guarducci E, Balercia G, Forti G and Krausz C: Partial AZFc deletions and duplications: clinical correlates in the Italian population.Hum Genet. 2008; 124(4): 399-410. 31. Lo Giacco D, Chianese C, Sanchez-Curbelo J, Bassas L, Ruiz P, Rajmil O, Sarquella J, Vives A, Ruiz-Castane E, Oliva R, Ars E and Krausz C: Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.Eur J Hum Genet. 2014; 22(6): 754-61. 32. Liu W, Gao X, Ma G, Yan L, Chen T, Li T, Yu RM and Ma JL: Correlation of genetic results with testicular histology, hormones and sperm retrieval in nonobstructive azoospermia patients with testis biopsy.Andrologia. 2016. 33. Zhang YS, Dai RL, Wang RX, Zhang ZH, Fadlalla E and Liu RZ: Azoospermia factor microdeletions: occurrence in infertile men with azoospermia and severe oligozoospermia from China.Andrologia. 2014; 46(5): 535-40. 34. Abid S, Maitra A, Meherji P, Patel Z, Kadam S, Shah J, Shah R, Kulkarni V, Baburao V and Gokral J: Clinical and laboratory evaluation of idiopathic male infertility in a secondary referral center in India.J Clin Lab Anal. 2008; 22(1): 29-38. | ||||
|
Statistics Article View: 216 PDF Download: 315 |
||||
