Chromosomal analysis of spermatozoa with normal-sized heads in two infertile patients with macrocephalic sperm head syndrome

Abstract

Objective: To study the chromosomal content of spermatozoa that could be selected for intracytoplasmic sperm injection (ICSI) in cases of macrocephalic sperm head syndrome.

Design: Case report.

Setting: Obstetrics, gynecology, urology, and reproductive biology departments.

Patient(s): Two infertile patient candidates for ICSI presenting with total teratozoospermia (100%) with mainly large-headed spermatozoa (91% and 82%, respectively).

Intervention(s): Fluorescence in situ hybridization with X, Y, 18 centromeric probes on unselected spermatozoa (all migrated spermatozoa) and specifically on selected spermatozoa with normal-sized heads.

Main outcome measure(s): Percentage of polyploid, diploid, aneuploid, and normal haploid spermatozoa, according to X, Y, 18 chromosome centromeric probes on selected spermatozoa (head size compatible with ICSI).

Result(s): All the nonselected spermatozoa were abnormal, diploid, or polyploid. The rate of normal ploidy (haploid cells) among the selected sperm population was 1 per 28 for patient 1 and 5 per 51 for patient 2.

Conclusion(s): This very low proportion of normal haploid spermatozoa among selected spermatozoa contraindicated ICSI for the two patients. We suggest performance of this selection and analysis before including (or not), in an ICSI program, patients with macrocephalic sperm head syndrome, associated or not with preimplantation genetic diagnosis.