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Molecular genetic analysis of 1,980 cases of male infertility

  • Authors:
    • Meimei Fu
    • Meihuan Chen
    • Nan Guo
    • Min Lin
    • Ying Li
    • Hailong Huang
    • Meiying Cai
    • Liangpu Xu
  • View Affiliations / Copyright

    Affiliations: Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defects, Fuzhou, Fujian 350001, P.R. China
    Copyright: © Fu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 345
    |
    Published online on: May 26, 2023
       https://doi.org/10.3892/etm.2023.12044
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Abstract

The present study aimed to investigate the occurrence of chromosomal karyotype abnormalities and azoospermia factor (AZF) microdeletion on the long arm of the Y chromosome (Yq) in infertile men, and to determine their association with infertility to ultimately improve clinical outcomes in these patients. A total of 1,980 azoospermic and oligospermic men from the outpatient department of the Fujian Maternity and Child Health Hospital (Fuzhou, China) were recruited between January 2016 and December 2019. Peripheral blood was used for karyotype analysis; AZF microdeletion analysis of the Yq was performed using capillary electrophoresis. Among the 1,980 patients, 178 had chromosomal abnormalities (9.0%; 178/1,980), of whom 98 had an abnormal number of chromosomes. Among the abnormal karyotypes, the most common was 47, XXY (80/178; 44.9%). AZF microdeletion on the Yq occurred at a rate of 10.66% (211/1,980); the most common type was the AZFb/c deletion (sY1192; 140/211; 66.4%). The present findings showed that karyotype abnormalities and AZF gene microdeletion are important drivers of male infertility. Specifically, men with Yqh‑ and del(Y)(q11) had a higher risk of AZF microdeletion. These results suggested that patient treatment could be personalized based on routine molecular genetic analysis, which could further alleviate the economic and emotional burden of undergoing redundant or ineffective treatments.
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1 

Mehta A, Nangia AK, Dupree JM and Smith JF: Limitations and barriers in access to care for male factor infertility. Fertil Steril. 105:1128–1137. 2016.PubMed/NCBI View Article : Google Scholar

2 

Miyamoto T, Minase G, Okabe K, Ueda H and Sengoku K: Male infertility and its genetic causes. J Obstet Gynaecol Res. 41:1501–1505. 2015.PubMed/NCBI View Article : Google Scholar

3 

Huynh T, Mollard R and Trounsun A: Selected genetic factors associated with male infertility. Hum Reprod Update. 8:183–198. 2002.PubMed/NCBI View Article : Google Scholar

4 

Sciarra F, Pelloni M, Faja F, Pallotti F, Martino G, Radicioni AF, Lenzi A, Lombardo F and Paoli D: Incidence of Y chromosome microdeletions in patients with Klinefelter syndrome. J Endocrinol Invest. 42:833–842. 2019.PubMed/NCBI View Article : Google Scholar

5 

Elsaid HOA, Gadkareim T, Abobakr T, Mubarak E, Abdelrhem MA, Abu D, Alhassan EA and Abushama H: Detection of AZF microdeletions and reproductive hormonal profile analysis of infertile Sudanese men pursuing assisted reproductive approaches. BMC Urol. 21(69)2021.PubMed/NCBI View Article : Google Scholar

6 

Bassas L: New aspects in the clinical assessment of the infertile male. In: 9th International Congress of Andrology. J Oncol. 30:2009.

7 

Skowronek MF, Velazquez T, Mut P, Figueiro G, Sans M, Bertoni B and Sapiro R: Associations between male infertility and ancestry in South Americans: A case control study. BMC Med Genet. 18(78)2017.PubMed/NCBI View Article : Google Scholar

8 

Baskaran S, Finelli R, Agarwal A and Henkel R: Diagnostic value of routine semen analysis in clinical andrology. Andrologia. 53(e13614)2021.PubMed/NCBI View Article : Google Scholar

9 

Ji Y, Xu HJ and Huang JC: Chromosome karyotype and Y chromosome microdeletion analysis in 133 idiopathic male infertile patients. Nan Fang Yi Ke Da Xue Xue Bao. 30:388–390. 2010.PubMed/NCBI(In Chinese).

10 

El-Dahtory F and Elsheikha HM: Male infertility related to an aberrant karyotype, 47, XYY: Four case reports. Cases J. 2(28)2009.PubMed/NCBI View Article : Google Scholar

11 

Hermetz KE, Newman S, Conneely KN, Martin CL, Ballif BC, Shaffer LG, Cody JD and Rudd MK: Large inverted duplications in the human genome form via a fold-back mechanism. PLoS Genet. 10(e1004139)2014.PubMed/NCBI View Article : Google Scholar

12 

Berglund A, Stochholm K and Gravholt CH: Morbidity in 47,XYY syndrome: A nationwide epidemiological study of hospital diagnoses and medication use. Genet Med. 22:1542–1551. 2020.PubMed/NCBI View Article : Google Scholar

13 

Ross JL, Tartaglia N, Merry DE and Zinn AR: Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features. Genes Brain Behav. 14:137–44. 2015.PubMed/NCBI View Article : Google Scholar

14 

Blumling AA, Martyn K, Talboy A and Close S: Rare sex chromosome variation 48,XXYY: An integrative review. Am J Med Genet C Semin Med Genet. 184:386–403. 2020.PubMed/NCBI View Article : Google Scholar

15 

Brugnon F, Janny L, Communal Y, Darcha C, Szczepaniak C, Pellestor F, Vago P, Pons-Rejraji H, Artonne C and Grizard G: Apoptosis and meiotic segregation in ejaculated sperm from Robertsonian translocation carrier patients. Hum Reprod. 25:1631–1642. 2010.PubMed/NCBI View Article : Google Scholar

16 

Dai X, Shi F, Cheung CKY, Li J and Lin S: Abnormal Y chromosome detection in infertile males using multiplex ligation-dependent probe amplification. Andrologia. 54(e14316)2022.PubMed/NCBI View Article : Google Scholar

17 

Yan R, Wu S, Wang W and Liu P: Generation of a human induced pluripotent stem cell line (SMUSHi001-A) from a patient with 46, XX male sex reversal syndrome carrying the SRY gene. Stem Cell Res. 54(102397)2021.PubMed/NCBI View Article : Google Scholar

18 

Nakagawa Y, Tada A, Kojo K, Tsuchiya H, Kurobe M, Uchida M, Yamasaki K, Iwamoto T and Sato Y: Analysis of the correlation between gene copy deletion in the AZFc region and male infertility in Japanese men. Reprod Biol. 23(100728)2023.PubMed/NCBI View Article : Google Scholar

19 

Zhu Y, Hu L, Cao D, Ou X and Jiang M: Chromosomal microarray analysis of infertile men with azoospermia factor microdeletions. Gene. 735(144389)2020.PubMed/NCBI View Article : Google Scholar

20 

Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, Lenzi A and Foresta C: Molecular and clinical characterization of Y chromosome microdeletions in infertile men: A 10-year experience in Italy. J Clin Endocrinol Metab. 92:762–770. 2007.PubMed/NCBI View Article : Google Scholar

21 

Vog PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kisewetter F, Köhn FM, Schill WB, Farah S, Ramos C, et al: Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet. 5:933–943. 1996.PubMed/NCBI View Article : Google Scholar

22 

Zhou C, Wang H, Zhu Q, Wang L, Zhu B and Liu X: Incidence and genetic reproductive characteristics of AZFc microdeletion among patients with azoospermia or severe oligospermia. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 40:26–30. 2023.PubMed/NCBI View Article : Google Scholar : (In Chinese).

23 

Soares AR, Costa P, Silva J, Sousa M, Barros A and Fernandes S: AZFb microdeletions and oligozoospermia-which mechanisms? Fertil Steril. 97:858–863. 2012.PubMed/NCBI View Article : Google Scholar

24 

Choi DK, Gong IH, Hwang JH, Oh JJ and Hong JY: 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. 54:111–116. 2013.PubMed/NCBI View Article : Google Scholar

25 

Elfateh F, Rulin D, Xin Y, Linlin L, Haibo Z and Liu RZ: Prevalence and patterns of Y chromosome microdeletion in infertile men with azoospermia and oligzoospermia in Northeast China. Iran J Reprod Med. 12:383–388. 2014.PubMed/NCBI

26 

Xiao Z, Zhou X, Xu W and Yang J: A preliminary study of the relationship between the long arm of the Y chromosome (Yqh+) and reproductive outcomes in IVF/ICSI-ET. Eur J Obstet Gynecol Reprod Biol. 165:57–60. 2012.PubMed/NCBI View Article : Google Scholar

27 

Gao M, Pang H, Zhao YH, Hua J, Tong D, Zhao H, Liu Y, Zhao Y, Zhang M, Yan XJ, et al: Karyotype analysis in large sample cases from Shenyang Women's and Children's hospital: A study of 16,294 male infertility patients. Andrologia. 49(e12649)2017.PubMed/NCBI View Article : Google Scholar

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Copy and paste a formatted citation
Spandidos Publications style
Fu M, Chen M, Guo N, Lin M, Li Y, Huang H, Cai M and Xu L: Molecular genetic analysis of 1,980 cases of male infertility. Exp Ther Med 26: 345, 2023.
APA
Fu, M., Chen, M., Guo, N., Lin, M., Li, Y., Huang, H. ... Xu, L. (2023). Molecular genetic analysis of 1,980 cases of male infertility. Experimental and Therapeutic Medicine, 26, 345. https://doi.org/10.3892/etm.2023.12044
MLA
Fu, M., Chen, M., Guo, N., Lin, M., Li, Y., Huang, H., Cai, M., Xu, L."Molecular genetic analysis of 1,980 cases of male infertility". Experimental and Therapeutic Medicine 26.1 (2023): 345.
Chicago
Fu, M., Chen, M., Guo, N., Lin, M., Li, Y., Huang, H., Cai, M., Xu, L."Molecular genetic analysis of 1,980 cases of male infertility". Experimental and Therapeutic Medicine 26, no. 1 (2023): 345. https://doi.org/10.3892/etm.2023.12044
Copy and paste a formatted citation
x
Spandidos Publications style
Fu M, Chen M, Guo N, Lin M, Li Y, Huang H, Cai M and Xu L: Molecular genetic analysis of 1,980 cases of male infertility. Exp Ther Med 26: 345, 2023.
APA
Fu, M., Chen, M., Guo, N., Lin, M., Li, Y., Huang, H. ... Xu, L. (2023). Molecular genetic analysis of 1,980 cases of male infertility. Experimental and Therapeutic Medicine, 26, 345. https://doi.org/10.3892/etm.2023.12044
MLA
Fu, M., Chen, M., Guo, N., Lin, M., Li, Y., Huang, H., Cai, M., Xu, L."Molecular genetic analysis of 1,980 cases of male infertility". Experimental and Therapeutic Medicine 26.1 (2023): 345.
Chicago
Fu, M., Chen, M., Guo, N., Lin, M., Li, Y., Huang, H., Cai, M., Xu, L."Molecular genetic analysis of 1,980 cases of male infertility". Experimental and Therapeutic Medicine 26, no. 1 (2023): 345. https://doi.org/10.3892/etm.2023.12044
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