A rare Robertsonian translocation rob(14;22) carrier with azoospermia, meiotic defects, and testicular sperm aneuploidy

Abstract

Male infertility is a serious problem in an increasing number of couples. We report an infertile man with non-obstructive azoospermia and karyotype 45,XY,rob(14;22). The immunofluorescence analysis of his testicular tissue using antibodies to SYCP1, SYCP3, HORMAD2, MLH1, and centromeres showed delayed synapsis of the chromosomes involved in the translocation, a varying extent of trivalent asynapsis and its association with sex chromosomes. The mean frequency of meiotic recombination per cell was within the range of normal values. Fluorescence in situ hybridization (FISH) with probes for chromosomes 14 and 22 revealed 5.83% of chromosomally abnormal testicular spermatozoa. FISH with probes for chromosomes X, Y, and 21 showed frequencies of disomic and diploid testicular spermatozoa increased when compared to ejaculated sperm of healthy donors, but comparable with published results for azoospermic patients. PGD by FISH for the translocation and aneuploidy of chromosomes X, Y, 13, 18, and 21 showed a normal chromosomal complement in one out of three analyzed embryos. A healthy carrier girl was born after the embryo transfer. This study shows the benefits of preimplantation genetic diagnosis in a case of a rare Robertsonian translocation carrier with azoospermia and a relatively low frequency of chromosomally unbalanced testicular spermatozoa.

• Aneuploidy
• azoospermia
• FISH
• meiosis
• PGD
• Robertsonian translocation
• testicular sperm

Declaration of interest

Supported by CEITEC – Central European Institute of Technology (ED1.05/1.1.00/02.0068) from the European Regional Development Fund. The authors report no declarations of interest.

Author contributions

Designed and coordinated the study including the genetic, hormone, semen, and embryo analysis: VS; Performed the meiotic and sperm-FISH analysis: MV; Performed the TESE: JH; Performed the statistical analysis: JR. All authors participated in preparation of the manuscript.