Detection of AZFc gene deletion in a cohort of Egyptian patients with idiopathic male infertility

Maha M Eid; Ola M Eid; Amany H Abdelrahman; Islam F S Abdelrahman; Elshaimaa A F Aboelkomsan; Rania M A AbdelKader; Mirhane Hassan; Marwa Farid; Alshaymaa A Ibrahim; Safa N Abd El-Fattah; Rana Mahrous

doi:10.1186/s43141-023-00584-9

Detection of AZFc gene deletion in a cohort of Egyptian patients with idiopathic male infertility

J Genet Eng Biotechnol. 2023 Nov 10;21(1):111. doi: 10.1186/s43141-023-00584-9.

Affiliations

¹ Human Cytogenetic Department, Human Genetics and Genome Research Institute, National Research Center, Bohouth Street, 12311 Dokki, Cairo, Egypt.
² Human Cytogenetic Department, Human Genetics and Genome Research Institute, National Research Center, Bohouth Street, 12311 Dokki, Cairo, Egypt. olameid@hotmail.com.
³ Clinical and Chemical Pathology Department, Medical Research and Clinical Studies Institute, National Research Center, Cairo, Egypt.
⁴ Andrology Department, Faculty of Medicine, Cairo University, Giza, Egypt.
⁵ Pathology Department, School of Medicine, New Giza University, 6th of October City, Egypt.

Abstract

Background: The deletions of azoospermic factor regions (AZF) are considered risk factor of spermatogenic failure. AZF duplications or complex copy number variants (CNVs) were rarely studied because STS-PCR could not always detect these changes. The application of multiplex ligation-dependent probe amplification (MLPA) as a valuable test for detection of the deletion and or duplication was introduced to investigate the AZF sub-region CNVs. The MLPA technique is still not applied on a large scale, and the publications in this area of research are limited. The aim of this work was to evaluate the efficacy of MLPA assay to detect AZF-linked CNVs in idiopathic spermatogenic failure patients and to evaluate its importance as a prognostic marker in the reproduction outcome.

Results: Forty infertile men (37 with azoospermia and 3 with severe oligozoospermia) and 20 normal fertile men were subjected to thorough clinical, pathological, and laboratory assessment, chromosomal study, MLPA, STS-PCR assays, histopathology study, and testicular sperm retrieval (TESE). Out of the 40 patients, 7 patients have shown CNV in the AZFc region, 6 patients have partial deletion, and one patient has partial duplication. Only one of the normal control has AZFc duplication. STS-PCR was able to detect the deletion in only 4 out of the 7 positive patients and none of the control.

Conclusion: We concluded that MLPA should be applied on a larger scale for the detection of Y chromosome microdeletion as a rapid, efficient, and cheap test.

Keywords: AZFc deletion; Azoospermia, Oligozoospermia; Idiopathic male infertility; Multiplex ligation-dependent probe amplification (MLPA).

Grants and funding

E121302/National Research Centre Egypt