Karyotype Analysis in Infertile Men from the Center Western Brazil

Abstract

Universidade Federal de Goiás, Goiânia, Goiás, Brasil Abstract Objective: To investigate the presence of chromosomal abnormalities in infertile men with azoospermia or oligozoospermia evaluated at the Human Reproduction Laboratory of the Hospital das Clinicas (LabRep -HC) of the Federal University of Goias (UFG), Goiania, Goias, Brazil, in the period 2012-2014. Methods: Metaphases were analyzed by GTG banding obtained from the culture of lymphocytes of 33 men with idiopathic infertility. Results: The patients’ ages ranged from 24-59 years and they had been attempting to conceive for an average of 5 (± 4,59) years. In 4 cases (12%) have been Klinefelter syndrome (KS) karyotype 47,XXY, was observed in three of these subjects and the fourth showed mosaicism 47,XXY[9]/46,XY[2]. The remaining 29/33 had normal karyotype. Conclusions: KS affects approximately 5 to 10% of infertile men, according to the literature. In this study, 12% of subjects were observed to have chromosomal abnormalities and sex chromosome aneuploidies were the only abnormality to be observed in the samples. Genetic testing can help identify which patients would benefit from technical reproduction. As well as contributing to unraveling the etiology of male infertility in patients treated at LabRep-HC-UFG, this study is relevant because assisted reproduction techniques ignore the process of natural selection and some classic chromosomal abnormalities or deleterious mutations could be inherited. Thus, counseling based on genetic assessments may prevent the inheritance of primary and secondary congenital defects in was slightly higher (5%). In our study, no individuals in the oligozoospermic group were found to have KS. All four KS cases were in the azoospermic group, which corresponds to 25% (4/16) of the azoospermic men. In the present study, 12% were diagnosed three with karyotype 47,XXY and one had amosaic 47XXY/46,XY karyotype.