Male infertility related to an aberrant karyotype, 46,XY,9ph,9qh+

Abstract

Objective: To report a man with primary infertility and variant karyotype.

Design: Case report.

Setting: Private practice.

Patient(s): A 37-year-old man with 4 years of primary infertility due to oligoasthenozoospermia.

Intervention(s): None.

Main outcome measure(s): G- and C-banding. Polymerase chain reaction for SRY, DBY, RBMY, DAZ, AMELX, and AMELY.

Result(s): G-band analysis of the proband revealed a 46,XY,9ph,9qh+ karyotype. C-banding confirmed increase in the heterochromatin in one chromosome 9 and inversion in the other.

Conclusion(s): The morphologic difference between the homologous chromosomes 9 may have been responsible for an error in crossing-over, leading to aberrant spermatozoa and consequently to infertility.