Cytogenetic Abnormalities and Y Chromosome Microdeletions in Azoospermic and Oligospermic Infertile Males from West of Iran
Archives of Advances in Biosciences,
Vol. 8 No. 2 (2017),
21 February 2017
,
Page 16-23
https://doi.org/10.22037/jps.v8i2.15022
Abstract
About 15% of couples have infertility problems, half of which are related to male factors. Cytogenetic and genetic disorders account for about 10% of the male infertility problems. The aim of this study was to determine the frequency and types of both cytogenetic abnormalities and AZF microdeletions of Y chromosome in idiopathic azoospermic and oligospermic infertile men in west of Iran. In this case-control study, a total of 108 infertile men including 62 azoospermic and 46 oligospermic men were studied for the cytogenetic and AZF microdeletions. Moreover, 90 fertile men served as a control group. Detailed clinical and laboratory examination was done for all participants. Karyotyping was done on peripheral blood lymphocytes to detect the cytogenetic abnormalities; likewise, multiplex-PCR method was performed to identify the presence of microdeletion in AZFa, AZFb or AZFc regions. Chromosomal abnormalities were detected in 6.5% (7/108) of cases, including two oligospermic men with balanced autosomal rearrangements, one oligospermic and four azoospermic men with Klinefelter syndrome. Y chromosome microdeletions were detected in 4.6% (5/108) of infertile men (AZFc: 3.7%, AZFbc: 0.9%). No AZFa deletion was detected in any of the patients. No chromosomal abnormality and Y chromosome microdeletion was detected in control group. The prevalence of chromosomal abnormalities and Y chromosome microdeletions shows the importance of genetic factors in male infertility. The analysis of karyotype and Y microdeletions in infertile men provide a proper understanding about the causes of infertility, the choice of the appropriate assisted reproduction technique and reducing the risk of transmission of these genetic defects to the future generation.
- Male infertility
- Chromosomal abnormalities
- AZF microdeletions
- Oligozoospermia
- Azoospermia
How to Cite
References
Balkan M, Tekes S, Gedik A. Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey. Journal of assisted reproduction and genetics 2008; 25(11-12):559-65.
Omrani MD, Samadzadae S, Bagheri M, Attar K. Y chromosome microdeletions in idiopathic infertile men from West Azarbaijan. Urology journal 2009; 3(1):38-43.
Naasse Y, Charoute H, El Houate B, Elbekkay C, Razoki L, Malki A, Barakat A, Rouba H. Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco. BMC urology 2015;15(1):1.
Pina-Neto JM, Carrara RC, Bisinella R, Mazzucatto LF, Martins MD, Sartoratto E, Yamasaki R. Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men. Brazilian journal of medical and biological research 2006; 39(4):555-61.
Zaimy MA, Kalantar SM, Sheikhha MH, Jahaninejad T, Pashaiefar H, Ghasemzadeh J, Zahraei M. The frequency of Yq microdeletion in azoospermic and oligospermic Iranian infertile men. Iranian journal of reproductive medicine 2013; 11(6):453.
Sheikhha MH, Zaimy MA, Soleimanian S, Kalantar SM, Rasti A, Golzade M, Fahraji HH. Multiplex PCR Screening of Y-chromosome microdeletions in azoospermic ICSI candidate men. Iranian journal of reproductive medicine 2013;11(4):335.
Wiland E, Yatsenko AN, Kishore A, Stanczak H, Zdarta A, Ligaj M, Olszewska M, Wolski JK, Kurpisz M. FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male. Reproductive biomedicine online 2015; 31(2):217-24.
Krausz C, Hoefsloot L, Simoni M, Tüttelmann F. EAA/EMQN best practice guidelines for molecular diagnosis of Y‐chromosomal microdeletions: state‐of‐the‐art 2013. Andrology. 2014; 2(1):5-19.
Malekasgar AM, Mombaini H. Screening of'Y'chromosome microdeletions in Iranian infertile males. Journal of human reproductive sciences 2008;1(1):2.
Amouri A, Hammami W, Kilani O, Bouzouita A, Ayed W, Meftah MB, Khrouf M, Fadhlaoui A, Abdelhak S, Zhioua F, Jaafoura MH. Chromosomal evaluation in a group of Tunisian patients with non-obstructive azoospermia and severe oligozoospermia attending a Tunisian cytogenetic department. Comptes rendus biologies 2014; 337(4):223-8.
Zhang YS, Li LL, Xue LT, Zhang H, Zhu YY, Liu RZ. Complete AZFb Deletion of Y Chromosome in an Infertile Male with Severe Oligoasthenozoospermia: Case Report and Literature Review. Urology 2016; 1(26):26-33.
Hammami W, Kilani O, Khelifa MB, Ayed W, Abdelhak S, Bouzouita A, Zhioua F, Amouri A. Prevalence of Y chromosome microdeletions in infertile Tunisian men. In Annales de biologie clinique 2014; 1(3): 331-336.
Choi DK, Gong IH, Hwang JH, Oh JJ, 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 journal of urology 2013; 54(2):111-6.
Ambulkar PS, Sigh R, Reddy MV, Varma PS, Gupta DO, Shende MR, Pal AK. Genetic risk of Azoospermia Factor (AZF) microdeletions in idiopathic cases of azoospermia and oligozoospermia in Central Indian population. Journal of clinical and diagnostic research: JCDR 2014; 8(3):88.
Iijima M, Koh E, Izumi K, Taya M, Maeda Y, Kyono K, Yoshida A, Namiki M. New molecular diagnostic kit to assess Y‐chromosome deletions in the Japanese population. International Journal of Urology 2014; 21(9):910-6.
Mirfakhraie R, Mirzajani F, Kalantar SM, Montazeri M, Salsabili N, Pourmand GR, Houshmand M. High prevalence of AZFb microdeletion in Iranian patients with idiopathic non-obstructive azoospermia. Indian J Med Res 2010; 132(1):265-70.
Suganya J, Kujur SB, Selvaraj K, Suruli MS, Haripriya G, Samuel CR. Chromosomal abnormalities in infertile men from southern india. Journal of clinical and diagnostic research: JCDR 2015; 9(7):GC05.
Mahjoubi F, Soleimani S, Mantegy S. Chromosomal Abnormalities in Infertile Men Referred to Iran Blood Transfusion Organization Research Center. Journal of Reproduction & Infertility 2010;11(3):175-8.
- Abstract Viewed: 726 times
- PDF Downloaded: 500 times