Genetic Causes of Male Infertility in Gaza Strip- Palestine: A Combined Cytogenetic and Y Chromosome Microdeletions Study

Abstract

Infertility is an extraordinary public health problem, especially in our Arab world, affecting about 15% of couples seeking children. However, in 50% of these the male partner is responsible for infertility. Chromosomal anomalies and Y chromosome classical microdeletions in the azoospermia factor (AZF) regions are known to be associated with spermatogenic failure. In addition, partial AZFc deletions have been exposed to continuing intense debate on whether they cause spermatogenic failures or not. In the current study, 85 patients with primary male infertility were studied in order to explore the cytogenetic and molecular background of male infertility in Gaza Strip of Palestine. Of the 85 infertile males, 8 patients (9.4%) showed chromosomal anomalies in the form of Klinefelter's syndrome [4/8, 50%], 47,XY,+mar [1/8,12.5%], 46,XY,del(17)(q25) [1/8,12.5%], 45,XY, Robertsonian fusion (15;21) [1/8,12.5%], and one with chromosomal instability that showed multiple mosaic karyotypes (1/8,12.5%). No Y chromosome classical microdeletions could be detected in any of the 85 infertile men, suggesting that ethnic factors, genetic background, and Y chromosome haplogroups are key factors in such deletions. On the other hand, 6 gr/gr AZFc partial deletion cases (6/85, 7%) and one b1/b3 AZFc partial deletion pattern (1/85, 1.2%) were detected in the infertile group, while one gr/gr deletion was detected in the proven fertile controls (1/30, 3.3%). In conclusion, our study proves that cytogenetic analysis is mandatory in any diagnostic workup of infertile males. Moreover, our study shows that the incidence of Y chromosome microdeletions is rare in our population, suggesting that other genetic, epigenetic, nutritional and local factors may be responsible for idiopathic azoo/oligozoospermic in Gazian Palestinian population. In addition, we suggest that gr/gr deletions may not be associated with male infertility.