A genetic survey of 1935 Turkish men with severe male factor infertility

Abstract

Male factor infertility is the sole reason in approximately 25% of couples who suffer from infertility. Genetic factors such as numerical and structural chromosomal abnormalities and microdeletions of the Y chromosome might be the cause of poor semen parameters. The results of karyotype analyses and Y-chromosome microdeletions of 1935 patients with severe male factor infertility, which is the largest series from Turkey, were assessed retrospectively. The frequency of cytogenetic abnormalities among 1214 patients with non-obstructive azoospermia (NOA) and 721 patients with severe oligoasthenoteratozoospermia (OAT) were 16.40 and 5.83% respectively. The overall incidence of Y-chromosome microdeletion was 7.70%. The incidence of Y chromosome microdeletion in patients with NOA and OAT was 9.51 and 1.86% respectively. The abnormality rate increased with the severity of infertility. Some patients (n = 22) were carriers of both chromosomal abnormalities and Y-chromosome microdeletions. Results suggest the need for genetic screening and proper genetic counselling before initiation of assisted reproduction treatment.

Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia

“…In the present study, chromosomal abnormality rate in patients with oligo-and azoospermia constituted 17 %, which was close to the rate reported by Kleiman and colleagues [14] in Israel (16.6 %) and higher than previously reported by Kumpete and colleagues [15] in Turkey (12 %), Wang and colleagues [16] in China (8.5 %), Rao and colleagues [17] in India (7.9 %), Gekas and colleagues [7] in France (6.9 %). In the studied group, 35 % of patients with azoospermia and 12.8 % of patients with oligozoospermia displayed chromosomal abnormalities.…”

Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men

“…The frequency of microdeletions (7.7%) detected in the present study is within the range reported worldwide (5.7-21.0%) [15] and lower than other reports of Asian populations (9.6-19.4%) [34]. This wide variation may be due to ethnic differences, selection of different patient groups, genetic background and the STS marker sets used [30,35].…”

“…Of them, 36 patients (36.4%) had chromosomal abnormalities. The prevalence of patients with both defects was slightly higher than that reported by Ng et al (2009) in Hong Kong (26.3%) [27] and Kumtepe et al (2009) in Turkey (21.0%) [34]. This variability is probably related to differences in the selection of patient groups, ethnic differences, and sample size.…”

Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience

“…Several of these studies are listed in Table 1 [6][7][8][9][10][11][12][13]. Although these studies have different inclusion criteria, a meta-analysis was performed to generate cumulative frequencies ( Table 1).…”

“…It was later shown that the AZF region actually comprises 3 different regions and deletions of any individual or multiple AZF region(s) (AZFa, AZFb, and AZFc) can lead to reduced or abnormal sperm production or azoospermia [20]. Several published studies have analyzed the frequency of the various Y-microdeletions in selected and unselected infertile male populations [7,12,13,[21][22][23][24]. Similar to the cytogenetic data, a meta-analysis of these studies was performed without taking into account inclusion criteria, and the cumulative frequency of Y-microdeletions among infertile males was determined to be 3.5% (Table 2).…”