Y chromosome microdeletions frequency in idiopathic azoospermia, oligoasthenozoospermia, and oligospermia

Abstract

Background:Genetic factors are candidates for about 30% of male infertility with sperm production-related abnormalities. Y chromosome microdeletions are responsible for around 10% of male infertility. These microdeletions generally occur in azoospermia factor on the Yq. That is often associated with the quantitative reduction of sperm.Objective: The aim of this cross-sectional study was to determine the frequency of Yq microdeletions among idiopathic azoospermic, oligoasthenozoospermic, and oligospermic men in Shohada infertility center, Chaharmahal va Bakhtiari province.Materials and Methods: A total of 81 idiopathic azoospermic, oligoasthenozoospermic, and oligospermic infertile men were selected as cases and 81 fertile men assigned to control group. For molecular investigations, 13 sequence-tagged site markers were chosen from azoospermia factor (AZF) region for detection of Y chromosome microdeletions and amplified by two separate multiplex-polymerase chain reaction. The relationship between the AZF microdeletions and incidence of male infertility in the family, consanguineous parents, smoking, and the levels of reproductive hormones among infertile men were investigated.Results:The total frequency of the microdeletions was 6.17% (2 cases in azoospermic, 3 cases in oligoasthenozoospermic subgroups, and none in the oligospermic participants and the control group). Most deletions (3.7%) were seen in the AZFb followed by the AZFc (2.46%) and none in AZFa. No significant association was seen between the microdeletions and clinical characteristics.Conclusion:Although the frequency of Yq chromosome microdeletions in Chaharmahal va Bakhtiari province is lower than the mean frequency of Iran, the frequency is comparable to those reported by some studies in Iran.

The Assessment of 5 Polymorphisms in the USP9Y Gene in Infertile Patients with Non-obstructive Azoospermia

“…Studies have shown that the levels of sex hormones, such as LH, FSH, and testosterone were significantly higher in infertile men in comparison with healthy men. These hormonal changes were much more seen in azoospermic men than in other infertile subgroups (36,37). These results suggest that the FSH, LH, prolactin, and testosterone levels cannot predict microdeletions in AZF in infertile men.…”

O polimorfismo dos genes gstm1 e gstt1 em pacientes com microdeleção na região azf

“…Diferentemente desse estudo, há relatos de que o cigarro influência na qualidade do sêmen (DAI, et al, 2015;ASARE-ANANE, et al, 2016;SANSONE, et al, 2018) e nos níveis dos hormônios sexuais (BASSEY, et al, 2018). Gholami et al (2017), também citam a potencial associação do cigarro com a microdeleção na região AZF. Bundhun et al (2019) demonstraram no seu estudo de meta análise que o tabaco está fortemente associado a um baixo número de espermatozoides, mas em um total de 16 estudos pesquisados por eles, o número de homens inférteis não fumantes foi analisado em 11 estudos, e fumantes foram de apenas 05 e 50% dos que não consumiam álcool eram azoospermicos, assim como esse estudo.…”

The frequency of cytogenetic abnormalities in idiopathic oligospermia and azoospermia infertile men in Chaharmahal and Bakhtiari province: a cross-sectional study

“…The Y chromosome microdeletions are the second genetic cause of male infertility after Klinefelter syndrome (6). The frequency of Y chromosome microdeletions was 6.17% in Chaharmahal and Bakhtiari Province (7). Generally, men with karyotype 47, XYY are fertile although this karyotype is much frequently observed in infertile men.…”