Evidence map›Paper›PMID 37947911›Full record

ArticleJournal, genetic engineering & biotechnology2023

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 and 1 more

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Article in Journal, genetic engineering & biotechnology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Maha M EidHuman Cytogenetic Department, Human Genetics and Genome Research Institute, National Research Center, Bohouth Street, 12311 Dokki, Cairo, Egypt.
Ola M EidHuman Cytogenetic Department, Human Genetics and Genome Research Institute, National Research Center, Bohouth Street, 12311 Dokki, Cairo, Egypt. olameid@hotmail.com.ORCID http://orcid.org/0000-0002-3898-7117
Amany H AbdelrahmanClinical and Chemical Pathology Department, Medical Research and Clinical Studies Institute, National Research Center, Cairo, Egypt.
Islam F S AbdelrahmanAndrology Department, Faculty of Medicine, Cairo University, Giza, Egypt.
Elshaimaa A F AboelkomsanPathology Department, School of Medicine, New Giza University, 6th of October City, Egypt.
Rania M A AbdelKaderHuman Cytogenetic Department, Human Genetics and Genome Research Institute, National Research Center, Bohouth Street, 12311 Dokki, Cairo, Egypt.
Mirhane HassanClinical and Chemical Pathology Department, Medical Research and Clinical Studies Institute, National Research Center, Cairo, Egypt.
Marwa FaridHuman Cytogenetic Department, Human Genetics and Genome Research Institute, National Research Center, Bohouth Street, 12311 Dokki, Cairo, Egypt.
Alshaymaa A IbrahimClinical and Chemical Pathology Department, Medical Research and Clinical Studies Institute, National Research Center, Cairo, Egypt.
Safa N Abd El-FattahClinical and Chemical Pathology Department, Medical Research and Clinical Studies Institute, National Research Center, Cairo, Egypt.
Rana MahrousHuman Cytogenetic Department, Human Genetics and Genome Research Institute, National Research Center, Bohouth Street, 12311 Dokki, Cairo, Egypt.

Funding

National Research Centre Egypt E121302
6 · The paper itself

Abstract

backgroundThe 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.

resultsForty 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.

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

Indexed as

AZFc deletionAzoospermia, OligozoospermiaIdiopathic male infertilityMultiplex ligation-dependent probe amplification (MLPA)

Identifiers

PMID37947911
PMCPMC10638347

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