Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males

Abstract

ObjectiveTo assess whether to perform routine cytogenetic and Y chromosome microdeletion screening on all infertile male patients. DesignA cytogenetic and Y microdeletion study of a random group of infertile men. SettingUniversity department. Patient(s)In total, 40 patients had azoospermia (21 nonidiopathic), 27 had severe oligozoospermia/oligoasthenozoospermia (≤5 × 106/mL) (5 nonidiopathic), 20 had oligozoospermia/oligoasthenozoospermia (5–20 × 106/mL) (6 nonidiopathic), and 16 had asthenozoospermia (5 nonidiopathic). Many were candidates for intracytoplasmic sperm injection (ICSI). Intervention(s)Collection of blood samples from all patients and buccal cells from one patient. Main outcome measure(s)Karyotype analysis, polymerase chain reaction (PCR) screening for Y chromosome microdeletions, and fluorescence in situ hybridization of abnormal chromosomes. Result(s)Ten (9.7%) subjects, including one nonidiopathic patient, were found to have an abnormal karyotype. Two idiopathic azoospermic patients were missing large portions of Y chromosome euchromatin, confirmed by PCR analysis and an additional idiopathic azoospermic patient had a Y chromosome microdeletion. Conclusion(s)Routine cytogenetic analysis of all infertile male patients is required but it may be advisable to limit routine Y chromosome microdeletion screening to patients with severe male factor infertility (≤5 × 106/mL).