Spermatological defects in male with robertsonian translocations

Introduction. Robertsonian translocations (RT) are the most common balanced chromosomal abnormalities. RT carriers may have an increased risk of reproductive disorders (infertility, pregnancy loss and chromosomal abnormalities/multiple congenital abnormalities in offspring), but the mechanisms of gametogenesis and fertility disorders are still under consideration. Aim: to evaluate semen parameters and meiosis in infertile male RT carriers. Methods. 21 men from infertile couples, RT carriers, were examined: rob(13;14), (n=16), rob(13;15) (n=3), rob(13;21) (n=1) and rob(14;15) (n=1). Chromosome analysis was performed according to a standard cytogenetic procedure using GTG staining. Semen analysis was done for all the patients, and for 5 patients with RT (13;14) quantitative karyological analysis of immature germ cells was done (QKA IGC). Results. Abnormal semen parameters were detected in all the men examined, with severe forms of pathozoospermia prevailing: oligoastenotheratozoospermia (81%, n=17) and azoospermia (14%, n=3); asthenotheratozoospermia was detected in one patient (5%). The QKA IGC revealed the mechanism of spermatogenesis failure - a partial arrest of spermatogenesis at the pre- pachytene stages and in the pachytene of prophase I of meiosis in oligozoospermic samples; and the absence of meiotic arrest in semen with normal sperm concentration. Conclusions. Subfertility in examined male RT carriers is associated with pathozoospermia and in most patients is caused by a partial arrest of spermatogenesis in prophase I of meiosis, which leads to a decrease in the number of spermatozoa (oligozoospermia) or their absence (azoospermia).

azoospermia, oligozoospermia, meiosis, male infertility, Robertsonian translocations, spermatogenesis

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