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

Abstract

Objective: To assess whether to perform routine cytogenetic and Y chromosome microdeletion screening on all infertile male patients.

Design: A cytogenetic and Y microdeletion study of a random group of infertile men.

Setting: University department.

Patient(s): In total, 40 patients had azoospermia (21 nonidiopathic), 27 had severe oligozoospermia/oligoasthenozoospermia (<or=5 x 10(6)/mL) (5 nonidiopathic), 20 had oligozoospermia/oligoasthenozoospermia (5-20 x 10(6)/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 (<or=5 x 10(6)/mL).