AZF micro-deletion in azoospermia and severe oligospermia: Molecular & histopathological study in Duhok Province

  • Rana A. Hanoon University of Duhok
  • Alaa H. Raziq University of Duhok
  • Farida F. Nerwey University of Duhok
Keywords: Azoospermia, oligospermia, Y chromosome microdeletions, Multiplex PCR, hormonal profile


Y chromosome micro-deletion (YCM) is a group of genetic diseases caused by missing gene (s) in specific regions of the Y chromosome. Many individuals with YCM show no manifestations and lead normal life. On the other hand, YCM is known to exist in a significant number of infertile males. Forty adult patients suffering from severe oligospermia and azoospermia were enrolled in the present study. Seminal fluid analyses were performed, and a blood sample was obtained for hormonal analysis and DNA extraction. Follicle stimulating hormone (FSH) and luteinizing hormone (LH) profiles were measured and those who are azoospermic with normal FSH levels were subjected to testicular biopsy. The results revealed that 23 patients were azoospermic while 17 patients were severe oligospermic. It is also shown that ten azoospermic patients had normal serum gonadotrophin levels thus they were directed for testicular biopsy. Histopathological examination of testicular biopsy showed that four patients had obstructive azoospermia while the remaining six suffered maturation arrest. DNA was extracted according to the standard proteinase K/phenol-chloroform method in the medical biotechnology laboratory/Scientific Research Center/University of Duhok. Multiplex PCR was performed for genes located in the azoospermia factor (AZF) regions (AZFa, AZFb, and AZFc) to detect any possible micro-deletions. Y chromosome micro-deletions were determined in 26 patients out of a total of 40 patients. Micro-deletions in the AZFc sub-region appeared in 16 out of 26 patients (61.5 %), and 10 (38.5 %) sample showed AZFb, however, AZFa micro-deletion was not detected in any of the patients. In conclusion, it has been found that Y chromosome micro-deletions in the AZF region can be a determining factor for male infertility and the resultant manifestations.

Author Biographies

Rana A. Hanoon, University of Duhok

Scientific Research Center, College of Science, University of Duhok

Alaa H. Raziq, University of Duhok

College of Medicine, University of Duhok

Farida F. Nerwey, University of Duhok

College of Medicine, University of Duhok


Abilash, V. G.; Saraswathy, R.; Marimuthu, K. M. (2010). The frequency of Y chromosome microdeletions in infertile men from Chennai, a South East Indian population and the effect of smoking, drinking alcohol and chemical exposure on their frequencies. Int. J. Genet. Mol. Biol. 2: 147-157.
Alkhalaf, M. and Al-Shoumer, K. (2010). Cytogenetics abnormalities and azoospermia factor (AZF) microdeletions in infertile men from Kuwait. J. Mol. Genet. Med. 4: 232-234.
Boettger-Tong, H. (2008). Genes Causing Azoospermia and Oligozoospermia. Glob. Libr. Women's Med.
Cocuzza, M.; Alvarenga, C.; and Pagani, R. (2013). The epidemiology and etiology of azoospermia. Clinics. 68:15-26.
Dada, R.; Gupta, N. P.; and Kucheria, K. (2004). Yq microdeletions azoospermia factor candidate genes and spermatogenic arrest. J. Biomol. Tech. 15: 176183.
Foresta, C.; Moro, E.; and Ferlin, A. (2001). Y chromosome microdeletions and alterations of spermatogenesis. Endocr. Rev. 22(2): 226-239.
Grimberg, J.; Nawoschik, S.; Belluscio, L. et al. (1989). A simple and efficient non organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res. 17:83-90.
Krausz, C.; Hoefsloot, L.; Simoni, M.; Tüttelmann, F. (2014). 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. 2(1): 5-19.
Krausz, C.; Hoefsloot, L.; Simoni, M.; Tüttelmann, F.; (2014). 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. Andrology. 2(1): 5-19.
Kyumars, S.; Yadegar, L.; Massoud Houshmand, M.; Mirfakhraie, M.; and Mohammadi, E. (2013). Y chromosome Microdeletions in Infertile Men with Severe Oligozoospermia. J. Basic. Appl. Sci. Res. 3(2):786-791.
Malekasgar, A.M.; and Mombaini, H. (2008). Screening of'Y'chromosome microdeletions in Iranian infertile males. Journal of human reproductive sciences.1(1):2.
Mitra, A.; Dada, R.; Kumar, R.; Gupta, N. P.; Kucheria, K.; and Gupta, S. K. (2008). Screening for Y-chromosome microdeletions in infertile Indian males: utility of simplified multiplex PCR. Indian J. Med. Res. 127(2): 124-132.
Moyet Al-Faisal, A. H.; Alnajar, A. F.; and Ghareeb, A. A. M. (2010). AZF, SRY microdeletions and hormonal disturbances among azoospermic Iraqi men. IJPS. 6(2): 92-97.
Naasse, Y.; Charoute, H.; El Houate, B.; Elbekkay, C.; Razoki, L.; Malki, A.; Barakat, A.; and Rouba, H. (2015). Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco. BMC Urology. 15 (95):1-6.
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. Report. 17(11): 2813-2824.
Omrani, M. D.; Samadzadae, S.; Bagheri, M.; and Attar, K. (2006). Y chromosome microdeletions in idiopathic infertile men from west Azarbaijan. Urol. J. 3(1): 38-43.
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. Repord. 14 (7): 1722-1726.
Poongothai, J.; Gopenath, T. S.; and Manonayaki, S. (2009). Genetics of human male infertility. Singapore Med. J. 50(4): 336-347.
Raicu, F.; Popa, L.; Apostol, P.; Cimpomeriu, 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(1): 43-48.
Repping, S.; Skaletsky, H.; Lange, J.; Silber, S.; Van Der Veen, F.; Oates, R. D. et al. (2002). Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am. J. Hum. Genet. 71(4): 906-922.
Rosai J. R. (2004). Ackerman’s surgical pathology. 9th ed. Vol 1. Edinburgh: Mosby.
Sargin, C.F.; Berker-karauzum, S.; Manguoglu, E.; Erdogru, T.; Karaveli, S.; Gulkesen, K. H. et al. (2004). AZF microdeletions on the Y chromosome of infertile men from Turkey. Ann. Genet. 47: 61-68.
Simoni, M.; Bakker, E.; and Krausz, C. (2004). EAA/EMQN best practice guidelines for molecular diagnosis of Y chromosomal microdeletions. State of the art 2004. Int. J. Androl. 27: 240-249.
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(4): 588-597.
World Health Organization. (1999). WHO Laboratory Manual for the Examination of Human Semen and Sperm-cervical Mucus Interaction, 4th ed. Cambridge: Cambridge University Press. 128 p.
Yamada, K.; Fujita, K.; Quan, J.; Sekine, M.; Kashima, K.; Yahata, T. et al. (2010). Increased apoptosis of germ cells in patients with AZFc deletions. J. Assist. Reprod. Genet. 27(6): 293-297.
Zaimy, M. A.; Kalantar, S. M.; Sheikhha, M. H.; Jahaninejad, T.; Pashaiefar, H.; Ghasemzadeh, J. et al. (2013). The frequency of Yq microdeletion in azoospermic and oligospermic Iranian infertile men. Iran J. Reprod. Med. 11(6): 453-458.
How to Cite
Hanoon, R., Raziq, A., & Nerwey, F. (2017). AZF micro-deletion in azoospermia and severe oligospermia: Molecular & histopathological study in Duhok Province. Science Journal of University of Zakho, 5(3), 239-243.
Science Journal of University of Zakho