Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.

This study report the discovery of novel monogenic causes of azoospermia, causing meiotic arrest. It shows a high diagnostic yield of exome analysis in highly selected clinically well defined patients. This finding has relevance for the design of future diagnostic gene panels. This finding has relevance also for the prediction of the outcome of testiscular biopsy, hence it helps decison making. some of teh identified genetic defects also causes premature ovarian insufficiency which has an impact on genetic counselling.