A familial partial AZFb-c microdeletion associated with diferente fértile phenotypes

After the Klinefelter syndrome, Y chromosome microdeletions are the second most frequent genetic cause of spermatogenic failure resulting in male infertility. Y chromosome microdeletions, encompassing one or more of the three AZF regions, are associated with diverse testicular histology, ranging from Sertoli-cell-only syndrome (AZFa del), maturation arrest (AZFb del) to hypospermatogenesis (AZFc del). The molecular screening of these regions is routinely performed in the work-up of infertile patients with azoospermia or severe oligozoospermia as each one has different prognostic values, both in terms of clinical decision-making and appropriate genetic counselling as well as for understanding the etiology of spermatogenesis impairment. Different partial AZFc deletions were already described, although it is still controversial if these are truly a genetic risk factor for spermatogenesis impairment or a deletional variant without phenotypic consequences.