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Prevalence of Y chromosome microdeletion in north Indian infertile males with spermatogenesis defect

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Abstract

Deletion of specific genes present in the long arm of Y chromosome has been identified as the most common genetic cause of defective spermatogenesis. Studies have shown that frequency of Y chromosome microdeletion varies in different geographical location and is related to genetic and environmental influence preponderance. Therefore, the present study was carried out to identify the frequency of Y chromosome microdeletion in the northern region of India and to define subgroup of infertile patients who are critically under more risk of having microdeletion. A total of 292 north Indian infertile males with nonobstructive azoospermia and oligozoospermia were selected for screening the Y chromosome microdeletion. Healthy fertile males (n=100) were also enrolled as control subjects. Frequency of Y chromosome microdeletion in north Indian infertile males was found to be about 8.5%, with azoospermia factor (AZFc) region as the most susceptible region for microdeletion. Comparatively microdeletion is more common in patients with nonobstructive azoospermia than oligozoospermia (9.2% versus 7.1%). Statistical analysis also revealed that patients with hormonal FSH level between 20 and 40 mIU/mL have more chances of harbouring microdeletion. Hence, the present study highlights the importance of screening AZFc region among infertile patients with very high serum FSH value.

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References

  • Abur U., Gunes S., Asci R., Altundag E., Akar O. S., Ayas B. et al. 2019 Chromosomal and Y-chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions. Andrologia 51, 13402–13410.

    Article  Google Scholar 

  • Agarwal S., Agarwal A., Khanna A. and Singh K. 2015 Microdeletion of Y chromosome as a cause of recurrent pregnancy loss. J. Hum. Reprod. Sci. 8, 159–164.

    Article  CAS  Google Scholar 

  • Ambulkar P., Chuadhary A., Waghmare J., Tarnekar A. and Pal A. 2015 Prevalence of Y chromosome microdeletions in idiopathic azoospermia cases in central Indian men. J. Clin. Diagn. Res. 9, 1–4.

    Article  Google Scholar 

  • Bushnik T., Cook J. L., Yuzpe A. A., Tough S. and Collins J. 2012 Estimating the prevalence of infertility in Canada. Hum. Reprod. 27, 738–746.

    Article  Google Scholar 

  • Dada R., Gupta N. P. and Kucheria K. 2003 Molecular screening for Yq microdeletion in men with idiopathic oligozoospermia and azoospermia. J. Biosci. 28, 163–168.

    Article  CAS  Google Scholar 

  • Ferlin A., Moro E., Garolla A. and Foresta C. 1999 Human male infertility and Y chromosome microdeletions: Role of AZF candidate gene DAZ, RBM, DFFRY. Hum. Reprod. 14, 1710–1716.

    Article  CAS  Google Scholar 

  • Foresta C., Ferlin A., Garolla A., Rossatao M., Barbaux S. and De Bortoli A. 1997 Y chromosome microdeletion in idiopathic severe testiculopathies. J. Clin. Endocrinol. Metabol. 82, 1075–1079.

    Article  CAS  Google Scholar 

  • Foresta C., Garolla A., Bettella A., Ferlin A., Rossato M. and Candiani F. 1998 Doppler ultrasound of the testis in azoospermic subjects as a parameter of testicular function. Hum. Reprod. 13, 3090–3093.

    Article  CAS  Google Scholar 

  • Foresta C., Moro E. and Ferlin A. 2001 Y chromosome microdeletion and alterations of spermatogenesis. Endocrine. Rev. 22, 226–239.

    CAS  Google Scholar 

  • Jiang M. C., Lien Y. R., Chen S. U., Ko T. M., Ho H. N. and Yang Y. S. 1999 Transmission of de novo mutations of deleted in azospermia (DAZ) gene from severly oligospermic males to son via intractoplasmic sperm injection. Fertil. Steril. 71, 1029–1039.

    Article  CAS  Google Scholar 

  • Khan F. H., Ganesan P. and Kumar S. 2010 Y Chromosome microdeletion and altered sperm quality in human males with high concentration of seminal hexachlorocyclohexane (HCH). Chemosphere 80, 972–977.

    Article  CAS  Google Scholar 

  • Krauz C., Quintana-Murci L. and McElreavey K. 2000 Prognostic value of Y deletion analysis. What is the clinical prognostic value of Y chromosome microdeletion analysis? Hum. Reprod. 15, 1431–1434.

    Article  Google Scholar 

  • McElreavey K. and Krausz C. 1999 Male infertility and the Y chromosome. Am. J. Hum. Genet. 64, 928–933.

    Article  CAS  Google Scholar 

  • Oates R. D., Silber S., Brown L. G. and Page D. C. 2002 Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum. Reprod. 17, 2813–2824.

    Article  CAS  Google Scholar 

  • Page D. C., Silber S. and Brown L. G. 1999 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. 14, 1722–1726.

    Article  CAS  Google Scholar 

  • Raicu F., Popa L., Apostol P., Cimponeriu D., Dan L., Ilinca E. et al. 2003 Screening for microdeletions in human Y chromosome-AZF candidate genes and male infertility. J. Cell. Mol. Med. 7, 43–48.

    Article  CAS  Google Scholar 

  • Sadeghi-Nejad H. and Farrokhi F. 2007 Genetics of azoospermia: Current knowledge, clinical implications, and future directions. Part II. Urol. J. 4, 192–206.

    PubMed  Google Scholar 

  • Sakthivel P. J. and Swaminathan M. 2008 Y chromosome microdeletions in sperm DNA of infertile patients from Tamil Nadu, south India. Indian J. Urol. 24, 480–485.

    Article  Google Scholar 

  • Saxena R., de Vries J. W., Repping S., Alagappan R. K., Skaletsky H., Brown L. G. et al. 2000 Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics 67, 256–267.

    Article  CAS  Google Scholar 

  • Sen S., Pasi A. R., Dada R., Shamsi M. B. and Modi D. 2013 Y chromosome microdeletions in infertile men: prevalence, phenotypes and screening markers for the Indian population. J. Assist. Reprod. Genet. 30, 413–422.

    Article  CAS  Google Scholar 

  • Simoni M., Bakker E., Eurlings M. C. M., Matthijis G., Moro E., Muller C. R. and Vogt P. H. 1999 Laboratory guidelines for molecular diagnosis of Y- chromosomal microdeletion. J. Androl. 22, 292–299.

    CAS  Google Scholar 

  • Simoni M., Bakker E. and Krausz C. 2004 EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art. Int. J. Androl. 27, 240–249.

    Article  CAS  Google Scholar 

  • Suganthi R., Manonayaki S. and Benazir J. F. 2009 Molecular analysis of Y-chromosome microdeletions in infertile men. Int. J. of Med. Sci. 2, 54–60.

    Google Scholar 

  • Suganthi R., Vijesh V. V., Vandana N., Benazir Ali Fathima and J. 2014 Y choromosomal microdeletion screening in the workup of male infertility and its current status in India. Int. J. Fertil. Steril. 7, 253–266.

    PubMed  Google Scholar 

  • Thangaraj K., Gupta N. J., Pavani K., Reddy A. G., Subramainan S., Rani D. S. et al. 2003 Y chromosome deletions in azoospermic men in India. J. Androl. 24, 588–597.

    Article  CAS  Google Scholar 

  • Thonneau P., Marchand S., Tallec A., Ferial M. L., Ducot B., Lansac J. et al. 1991 Incidence and main causes of infertility in a resident population (1,850,000) of three French regions (1988–1989). Hum. Reprod. 6, 811–816.

    Article  CAS  Google Scholar 

  • Tournaye H., Verheyen G., Nagy P., Ubaldi F., Goossens A. and Silber S. 1997 Are there any predictive factors for the successful testicular sperm recovery in azospermic patients? Hum. Reprod. 12, 80–86.

    Article  CAS  Google Scholar 

  • Van Golde R. J., Wetzels A. M., de Graaf R., Tuerlings J. H., Braat D. D. and Kremer J. A. 2001 Decreased fertilization rate and embryo quality after ICSI in oligozoospermic men with microdeletions in the azoospermia factor c region of the Y chromosome. Hum. Reprod. 16, 289–292.

    Article  Google Scholar 

  • Vogt P. H., Edelman A. and Kirsch. 1996 Human Y chromosome azospermia factor (AZF) mapped to different sub regions in Yq11. Hum. Mol. Genet. 5, 933–943.

    Article  CAS  Google Scholar 

  • Xi Q., Zhang Z., Wang R., Li L., Li L., Zhu H., Liu R. and Luo L. 2019 Obstetric and perinatal outcomes of intracytoplasmic sperm injection for infertile men with Y chromosome microdeletions. Medicine 98, 17407–17412.

    Article  Google Scholar 

  • Zegers-Hochschild F., Adamson G. D., de Mouzon J., Ishihara O., Mansour R., Nygren K. et al. 2009 International committee for monitoring assisted reproductive technology (ICMART) and the World Health Organization (WHO) revised glossary of ART terminology. Fertil. Steril. 92, 1520–1524.

    Article  CAS  Google Scholar 

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Acknowledgement

The authors acknowledge the support of the Indian Council of Medical Research, New Delhi, India, for funding this research work (grant sanction no. 54/10/2008-BMS).

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Authors and Affiliations

  1. Department of Biochemistry, All India Institute of Medical Science, Bathinda, 151 001, India

    HIMANSHU SHARMA

  2. Department of Biochemistry, Post Graduate Institute of Medical Education and Research, Chandigarh, 160 012, India

    HIMANSHU SHARMA, UJJAWAL SHARMA & RAJENDRA PRASAD

  3. Department of Urology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160 012, India

    SANTOSH KUMAR, SHRAWAN KUMAR SINGH & RAVI MOHAN S. MAVADURU

  4. Department of Biochemistry, Maharishi Markandeswar Institute of Medical Sciences and Research, Mullana, Ambala, 133 207, India

    RAJENDRA PRASAD

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  1. HIMANSHU SHARMA
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  2. UJJAWAL SHARMA
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Correspondence to RAJENDRA PRASAD.

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Corresponding editor: Indrajit Nanda

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SHARMA, H., SHARMA, U., KUMAR, S. et al. Prevalence of Y chromosome microdeletion in north Indian infertile males with spermatogenesis defect. J Genet 100, 39 (2021). https://doi.org/10.1007/s12041-021-01291-5

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  • DOI: https://doi.org/10.1007/s12041-021-01291-5

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