PP03. GENETIC DIAGNOSIS IN INFERTILE MEN WITH NUMERICAL AND CONSTITUTIONAL SPERM ABNORMALITIES
ÇINAR Ç.1, Yazici C.2, Ergünsu Ş.1, Beyazyürek Ç.3, Javadova D.1, Sağlam Y.3, Tarcan T.2, Güney İ.1 1. Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey. 2. Department of Urology, School of Medicine, Marmara University, Istanbul, Turkey. 3. Memorial Hospital, IVF Center, Istanbul, Turkey. e-mail: cigdemcinar78@hotmail.com
*Corresponding Author:
page: 49

Abstract

Objective: We aimed to investigate relationship between the numerical and constitutional (morphological) sperm anomalies and the genetic disorders that can be seen in infertile males. Also we aimed to compare two different kits that we use for the detection of Y chromosome microdeletions. Methods: In this study, 63 infertile male [44 non-obstructive azoospermic-NOA, 8 severe oligozoospermic and 11 oligoastheno-teratozoospermic (OAT)] were investigated in terms of somatic chromosomal constitutions and microdeletions of the Y chromosome. Sperm aneuploidy levels analysed by FISH metod in sperm cells obtained from semen of 6 OAT patients. Results: In 63 infertile patients investigated from genetic point of view, Y chromosome microdeletion was determined in AZFc region containing DAZ(Deleted in Azoospermia) gene of 2 azoospermic patients. 47 XXY chromosomal constitution (Kleinefelter syndrome) was determined in all cells of 3 azospermic patients. According to these results, deletion rate was approximately found as 3,2 % and sex chromosome aneuploidy (47,XXY) rate in somatic cells was found approximately 4,7 %. 47 %, 22 %, and 9 % sperm aneuploidy rates were determined in 3 patients out of 6. Two of these three patients with 47 % and 9 % aneuploidy rates have 99 % and 94 % head anomalies in semen samples respectively. Conclusion: It is interesting to determine very high aneuploidy rates in patients who have high head anomaly rates. However, we think that the results of this study must be confirmed in larger groups. By this way reliable evaluation of sperm aneuploidy rates and other semen parameters can be performed. To evaluate all the parameters together will be effective to illuminate relationship between important genetic factors in male infertility. It will be inevitable to analyse CFTR gene mutations, sperm mt. DNA mutations and androgen reseptor gene mutations exc. and to prepare a male infertility panel in the near future.




Number 27
VOL. 27 (2), 2024
Number 27
VOL. 27 (1), 2024
Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006