Chromosomal and molecular abnormalities in a group of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia attending an infertility service

Abstract

Purpose: To determine the frequency of genetic alterations in a population of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia. Materials and Methods: Retrospective study of a group of 143 infertile men with severe oligozoospermia or non-obstructive azoospermia from the Andrology Outpatient Clinic of the Human Reproduction Service at the ABC School of Medicine. Of these patients, 100 had severe oligozoospermia, and 43 non-obstructive azoospermia. All patients underwent a genetic study which included karyotype analysis and Y-microdeletion investigation. Results: Genetic abnormalities were found in 18.8% of the studied patients. Chromosomal abnormalities were found in 6.2% of the patients, being more prevalent in the azoospermia group (11.6%) than in the oligozoospermia group (4%). Chromosomal variants were found in 8.3%, and Y-chromosome microdeletions in 4.2% of patients. Conclusion: The high frequency of genetic alterations (18.8%) in our series justified performing a genetic investigation in a population with idiopathic infertility, as results may help determine the prognosis, as well as the choice of an assisted reproduction technique. Moreover, a genetic investigation could minimize the risk of transmitting genetic abnormalities to future generations such as genetic male infertility, mental retardation, genital ambiguity and/or birth defects.

Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China

“…Mafra et al (2011) reported chromosomal abnormalities for 6.2% of infertile Brazilian men with severe oligozoospermia or non-obstructive azoospermia and the total prevalence of chromosomal abnormalities was found to be 11.2% in infertile males with oligozoospermia and azoospermia in southeast Turkey (Balkan et al, 2008). Ocak et al (2014) reported structural or numerical chromosomal abnormalities to be present in 12% of patients with azoospermia or severe oligospermia and 10.9% of Chinese patients with azoospermia or severe oligozoospermia were found to have chromosomal abnormalities (Zhou-Cun et al, 2006).…”

Y-chromosome microdeletion and male infertility: a systematic review

“…Of the 32 selected studies 14 are from descriptive [1, 2, 4, 13, 24, 27-29, 31, 32, 34-37], 08 are cross-sectional [3,5,17,18,21,25,26,33], 05 are experimental [7,12,19,20,38], 03 are case reports [22,30,39] and 02 are case-control studies [10,23]. Studies have good methodological accuracy.…”

“…Studies have good methodological accuracy. The sample universe is quite heterogeneous, given the very design of the studies (22 case reports with 02 individuals up to 33 cross-sectional studies with 4, 441 individuals), age differences between individuals in the samples ranging from 17 years [10] to 66 years [21], as well as the origin of the patients who were: India [2,23,25,35], Brazil [3,31,34,36], China [4,10,17,18], Iran [1,7,19,21] Turkey [5,26,27] [20], Denmark [37], USA [22], england [38], Mexico [30], Serbia [28] and Venezuela [32]. Because of this situation, the data becomes divergent and the comparative analysis becomes troublesome.…”

“…Infertility affects 10-15% of couples of reproductive age [1][2][3][4]. The contribution of factors related to male is between 30-50% [5].…”

“…al. [3] reported that the Y-chromosome microdeletions were found in 4.2% of infertile men studied. And that by doing a separate analysis, were detected 3% (3/100) microdeletions in oligozoospermic group of patients and 6.9% (3/43) in the group of azoospermic.…”