CNVs in spermatogenic failure

To determine the involvement of Copy Number Variants (CNVs) in the origin of male infertility, patients with idiopathic severe oligozoospermia, Sertoli-cell-only syndrome and controls with normozoospermia were analysed by array CGH using the 244A/400K array sets (Agilent Technologies). Comparison of 89 infertile male patients with severe oligozoospermia (≤5 x Mill./ml sperm concentration and ≤10 Mill. total sperm count) and 37 with azoospermia due to complete, bilateral Sertoli-cell-only syndrome (SCOS) with 100 healthy controls with normal semen parameters (≥20 Mill./ml sperm concentration, ≥40 Mill. total sperm count, ≥2 ml semen volume, ≥50% of a+b or ≥25% a motility, high percentage of normal forms (≥10%)). Patients with recurring, patient-specific and mostly private, sex-chromosomal CNVs (29 with OAT and 17 with SCOS) are reported as possibly causing spermatogenic failure.