Cytogenetic Analysis in Patients with Azoospermia

BACKGROUND Azoospermia (the absence of sperm in the semen) significantly amounts to infertility in men (15 % of infertile men). Since genetics plays a huge part in its origin, genetic testing needs to be considered as an important part of early diagnostics when evaluating azoospermic patients. The aim of our study was to determine the genetic cause of azoospermia, to analyze karyograms and the possible presence of Y chromosome microdeletion. METHODS The study included 20 men diagnosed with azoospermia. The oldest male was 50 and the youngest was 24 years old. They were sent for analysis of karyotype and microdeletions of the Y chromosome (AZF region) to the Center for Genetics of the Faculty of Medicine. RESULTS The results of the cytogenetic analysis showed 3/20 (15 %) of abnormal karyotypes. Three patients were identified with two different translocations that were not previously reported. Two brothers were identified with the same translocation between the short arm of chromosome 8 and the long arm of chromosome 17 [46, XY, t(8;17)(p23;q11)], after both of them had failed in-vitro fertilization (IVF). The third patient with chromosomal translocation between the short arm of chromosome 4 and the long arm of chromosome 11 [46, XY, t(4;11)(p16;q13)]. Molecular genetic analysis showed no Y chromosome microdeletion in any of these three cases. However, from the rest of the group, only one patient had Y chromosome microdeletion in the AZFc region (one of the most common causes of genetic azoospermia). His karyotype was normal. CONCLUSIONS Our study confirms that cytogenetic and molecular genetic analysis plays an important role in identifying the cause of azoospermia. Genetic counseling should be provided when these abnormalities are identified before making any future medical decisions.