Genetics diagnosis of male infertility in Argentina: its association with ethnic origin and impact on clinical decisions

ALECHINE, EVGUENIA; GABRIELA MENDELUK; MARIANO COHEN; FLORENCIA FULCO; JULIETA TRINKS; DANIEL CORACH

Buenos Aires

Congreso; International Congress in Translational Medicine.; 2014

International Master in Biomedical Sciences

The present work describes the possible association between male infertility and microdeletions of the AZF region of the Y chromosome in the Argentinean population. The analysis of AZF is routinely requested to severe oligozoospermia or azoospermia patients in order to predict sperm recovery from the testis. Previous population studies have demonstrated variation in the prevalence and effect of these microdeletions. The results obtained in 240 fertile, 170 infertile and 90 azoospermic men from the Argentinean population, showed different types of microdeletions between the analyzed groups. A significant increase in the prevalence of deletions was only observed in the azoospermic patients group. The association between the gr/gr deletion and spermatogenic failure was discarded. Only complete microdeletions showed association with azoospermia or severe oligozoospermia, with lack of association between these deletions and spermatogenic failure. Polymorphic microdeletions were associated with specific haplogroups, conversely to pathological microdeletions that showed no association. Azoospermic patients without deletions evidenced that there should be other factors affecting spermatogenesis. In conclusion, it is not possible to predict sperm retrieval using only the currently recommended markers. To identify additional markers, we developed a molecular biology tool for the detection of spermatogenesis candidate genes. The identification and evaluation of novel markers and assessment of ethnicity, will allow clinicians to make more accurate clinical decisions and genetically advise the infertile couple.