Fig. 2

Investigation of patients harboring the HFM1 variants and the controls. A Testicular histological sections from an OA patient (control-i) and patients harboring the HFM1 variants (F1 II-1-i, F2 II-1-ii) were stained with hematoxylin and eosin (H&E). Scale bar represents 20 μm. B Immunofluorescent staining of histological sections from the testis biopsy of the control and patients carrying the HFM1 variants usingγH2AX (green, marker for DSBs and XY body) and Hoechst (blue). Many aberrant γH2AX spots in samples of F1 II-1 were observed, such as small patches of γH2AX staining or two (or more) γH2AX-positive XY body–like structures. Extremely reduced XY body positive tubules were observed in samples of F2 II-1, indicating that the cells rarely reach the pachytene stage. Scale bar represents 5 µm