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    Chromosomal abnormalities in non-obstructive azoospermic men prior to employment of assisted reproduction in Southeast Turkey
    (Japan International Cultural Exchange Foundation, 2015) Balkan M.; Atar M.; Kemal Hatipo?lu N.; Nuri Bodakçi M.; Çakmakçi S.; Yildiz I.; Siddik Evsen M.
    Objective: The causes of male infertility are heterogeneous but more than 50% of cases have a genetic defect. Chromosomal abnormalities that affect on gametogenesis are one of the principle genetic factors in male infertility. The aim of this study is to determine the frequency and type of chromosomal abnormalities in non-obstructive azoospermic men with severe male factor infertility to give appropriate genetic counseling before assisted reproduction techniques. Materials and Methods: A total of 114 azoospermic infertile males were studied for the cytogenetic evaluation prior to use of assisted reproduction techniques. A detailed history was taken for each man. Karyotyping was performed on peripheral blood lymphocytes according to standard methods. Results: The overall incidence of chromosomal abnormalities was about 22.8% (26/114), including the sex chromosome abnormality 19.3% and the autosomal chromosome abnormality 3.5%. Twenty one of 22 patients with sex chromosome abnormality had classic Klinefelter karyotype. There were 2 mosaic cases involving X and Y chromosomes. Of the four cases with autosomal chromosome anomalies, three cases had balanced reciprocal translocations and one case with inversion. FSH, LH and testosterone levels showed significant increase in azoospermic patients with abnormal karyotype when compared with the normal karyotype (P < 0.05). Conclusions: Our findings are generally in accordance with those from other surveys and confirm that the XXY aneuploidy is the most frequent chromosomal abnormality in azoospermic individuals. The occurrence of chromosomal anomalies among infertile males suggests the need for genetic screening and proper genetic counselling before initiation of assisted reproduction treatment. © 2015 Japan Health Sciences University.
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    The incidence and distribution of pericentric inversion of chromosome 9
    (2003) Balkan M.; Alp M.N.; Budak T.
    Akthough pericentric inversion of chromosome 9 occurs frequently and draws interests of lot of cytogeneticists, it is not associated with abnormal phenotypes and considered clinically as normal variants. The incidence is said to be about 1% to 1.65 % in the general population. Despite 1 being categorised as a minor chromosomal rearrangement which does not correlate with abnormal phenotypes seen in healthy individuals, some reports in the literature raised conflicting views regarding the association with subfertility and abortions, abnormal clinical conditions and chromosomal abnormalities associated with this inversion. We studied retrospectively the incidence of pericentric inversion of chromosome 9 cases which was referred to our laboratory since 1969 and also analysed peripheral blood karyotypes in specimens collected from 1999 to 2002 and found the incidence to be % 1.65.
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    Klinefelter’s syndrome and social handicaps in Southeast of Turkey
    (DergiPark, 2019) Oral D.; Şimşek S.; Türkyılmaz A.; Yücel İ.; Tekes S.; Balkan M.
    The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births In this study we aimed to evaluate the postnatally screened karyotype results in man who were referred diagnosis of Klinefelter syndrome between 1998 and 2010 in the city of Diyarbakir, Southeast Turkey.High resolution Giemsa banding chromosome analysis and/or fluorescence in situ hybridization were done males diagnosis of Klinefelter syndrome. A total of 552 cases were evaluated retrospectively.One hundred twenty out of 552 (21.74%) cases showed of Klinefelter syndrome.Genetic counseling was provided for the cases that received Klinefelter syndrome results. The rate of gonosomal chromosomal abnormalities was social problem in our region. Chromosomal analysis is strongly suggested particularly in those who suffer fertility problems © 2019 Published by International Archives of Medical Research. All rights reserved
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    The possible association of polymorphisms in MTHFR, MTRR, and MTHFD1 genes with male infertility
    (2013) Balkan M.; Atar M.; Erdal M.E.; Yildiz I.; Hatipoğlu N.K.; Bodakç M.N.; Ay O.I.
    Objective: The aim of this study was to investigate the association of the methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR), and methylenetetrahydrofolate dehydrogenase (MTHFD1) polymorphisms in idiopathic infertile men and fertile men. Materials and Methods: Case-control study comprising a total of 233 individuals including 108 idiopathic infertile men with nonobstructive azoospermia and 125 fertile men as control. MTHFR C677T, A1298C; MTRR A66G; and MTHFD1 G1958A polymorphisms were studied by Real-Time PCR System. The results were analyzed statistically and a P value <. 05 was considered significant. The Chi square test was used to analyze the genotype distributions of polymorphisms. Results: Single-marker analysis revealed that none of the four polymorphisms was significantly associated with nonobstructive azoospermia. All groups were tested for Hardy-Weinberg equilibrium and the deviation from the Hardy-Weinberg equilibrium takes place for MTHFR C677T (P < 0.05) a combination of controls and infertile group. We also performed a multifactor dimensionality reduction (MDR) analysis to investigate any potential epistatic interactions among the four polymorphisms and male infertility. We found a synergistic interaction between some polymorphisms (P < 0.05). Conclusion: Our findings therefore suggest no individual but interactive association between four prominent folate metabolism pathway markers and male infertility among population in the Southeast Turkey. © 2013 Japan International Cultural Exchange Foundation & Japan Health Sciences University.