Endocrine Abstracts

Background : Infertility affects 15% of couples. In 50% of cases, it can be explained by male infertility with abnormal spermatogenesis. Cytogenetic causes are identified in 15% of men with infertility.

Materials and Methods: We report the results of a cytogenetic study performed in infertile men with spermogram abnormalities collected at the Department of Congenital and Hereditary Diseases of Charles Nicolle Hospital in Tunis, over 12 years from January 2011 to February 2023. A standard karyotype on peripheral blood was performed in all patients.

Results: The number of infertile patients with spermogram abnormalities collected was 622. The blood karyotype showed the presence of a chromosomal abnormality in 81 patients (13%) of whom 69/81 had azoospermia, 9/81 had oligoasthenoteratospermia, 2/81 had cryptozoospermia and one patient had sperm degradation. The mean age at the first genetic consultation was 38 years. The chromosomal abnormalities identified were Klinefelter syndrome (47,XXY) in 56/81 patients (homogeneous in 50/56 patients and mosaic in 6/56 patients), a mosaic formula associating a 45,X population, and a second population with a normal or rearranged Y chromosome in 4/81 patients, an XYY formula in 3/81 patients and a Yq deletion in 3/81 patients, a supernumerary marker chromosome in 1/81 patients, a balanced structural rearrangement in 12/81 patients (4 Robertsonian translocations, 5 reciprocal translocations, and 3 inversions) and a 46,XX formula in 2/81 patients with male phenotype and gonadal dysgenesis.

Conclusion: Our study’s high rate of chromosomal abnormalities identified in infertile men (13%) emphasizes the importance of performing karyotype in men with spermogram abnormalities to search for a chromosomal cause and guide management.