According to recent studies, copy number variationsof H2B.W locus with other genes [plectin (PLEC), tetraspanin7 (TSPAN7) and p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3)] were found not only inmen with sertoli cell only syndrome (SCOS), but alsoin women suffering from premature ovarian failure(POF) and XY gonadal dysgenesis. This evidence concerns the gene PLEC and Sertoli Cell-Only Syndrome.