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.




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