Y chromosome microdeletions screening in Tunisian infertile men

Abstract

Aim: Chromosome abnormalities evaluation and Y chromosome microdeletions screening prior to assisted reproduction have an important interest in preserving future generations of genetic risks. The primary aim of this study was to establish the prevalence of chromosomal abnormalities and microdeletions on Yq chromosome in Tunisian infertile men with severe oligozoospermia or non obstructive azoospermia. Secondary to correlate Yq microdeletions with testicular sperm extraction results and cytological evaluation. Methods: In this prospective study, Eighty-four infertile patients and 52 controls were screened for karyotypic abnormalities and Yq chromosome microdeletions. Results: No chromosome abnormalities and no microdeletions were detected in controls. Seven infertile males (8.3%) carried chromosomal abnormalities and 8 (9.5%) presented Y chromosome microdeletions. The frequency of chromosome abnormalities in azoospermic patients was 11.1% vs 3.3% in severe oligozzospermic group. The frequency of microdeletions was 11.1% in the azoospermic group and 6.7% in the severe oligozoospermic group. Six out of 84 (71.4%) of the infertile patients had microdeletions in the AZFc region (4 azoospermic and 2 severe oligozoospermic males), 1 azoospermic male (10%) in the AZFb,c regions and one in AZFb, no deletions in the AZFa region were detected. Among the 6 azoospermic patients with microdeletions: 4 had Sertoly cell only syndrome (SCOS) and 2 had maturation arrest (MA). Conclusion: Genetic abnormalities and Yq microdeletions in infertile Tunisian patients are frequent and similar to those reported in other countries. The knowledge of the existence of genetic abnormalities and microdeletions is useful to provide a correct diagnosis of male infertility, it allows the physician to refer the patient to adequate assisted reproduction technique and examine the value of testicular biopsy pertinence.

Prevalence of Y-chromosomal microdeletions and karyotype abnormalities in a cohort of Lebanese infertile men

“…The percentage of infertile patients with microdeletions in the AZFc region was 7.14% (four azoospermic and two severe oligozoospermic males), one azoospermic male (1.19%) in the AZFbc regions, and one in AZFb (1.19%). [ 12 ] Another study in Iraq showed that the prevalence of Y-chromosome microdeletions was 40.7%. Around 53% of azoospermic patients had microdeletions, and those with severe oligospermia exhibited 28% microdeletions.…”

Abnormal Y chromosome detection in infertile males using multiplex ligation‐dependent probe amplification

“…Akınsal et al identified 1,616 infertile males in Turkey and found the prevalence of Y chromosome microdeletions to be 3.3% with microdeletions in the AZF region being the most common, and Y chromosome microdeletions were frequently found in certain infertility subgroups (Akınsal et al, 2018). Moreover, four studies on Tunisian infertile males found that the frequency of Y chromosome microdeletions ranged from 2.70% to 16.00% (Chabchoub et al, 2019; Hadj‐Kacem et al, 2006; Hammami et al, 2014; Rejeb et al, 2008). Furthermore, a study conducted by Franchim et al (2020) on 43 infertile men and 41 controls found the MLPA technique to have high diagnostic value for assessing microdeletions and microduplications.…”