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77051

Detection of Y-Chromosome microdeletions in Egyptian infertile males

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Last updated: 22 Jan 2023

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Abstract

The major genetic causes in male infertility are chromosomal abnormalities and Y chromosomal microdeletions (YCMs). YCMs occur in approximately 15% of azoospermic patients and 10% of severe oligospermic patients. These microdeletions lead to spermatogenic failure. This study aims to report the incidence of Azoospermia factor (AZF) microdeletions in Egyptian infertile males with severe oligoospermia & non obstructive azoospermia (NOA) using multiplex PCR. One hundred-fifty infertile males were included. Semen analysis, hormonal assay, karyotyping, testicular sperm extraction and testicular biopsy were performed.Y chromosome microdeletions were detected by using multiplex polymerase chain reaction (PCR). Among 150 infertile males; Considering Y chromosome; in severe oligospermic infertile males 3/36 (8.3%) had Y chromosome microdeletions in AZF subregions where; 1/3(33.3%) showed deletions in AZF-c and 2/3(66.7%) showed deletions in both AZF-b+c. However; no deletions were detected in AZF-a region in this group. In NOA group, 21/114(18.4%)  had Y chromsome microdeletions in AZF subregions where;  1/21 (4.8%)  showed deletions in AZF-b region, 2/21 (9.5%) showed deletion in both of AZF-a+b+c regions, 8/21 (38%) showed deletions in AZF-c region only and 10/21 (47.6%) showed deletions in both AZF-b+c regions. Conclusion: The frequency of Y chromosome microdeletions in our studied patients was similar to many ethnic reports. Detection of AZF microdeletions is necessary for proper genetic diagnosis in infertile males. AZFc can help informed decisions regarding positive testicular sperm extraction outcome.      

DOI

10.21608/jsrs.2019.77051

Keywords

Male infertility, Y chromosome microdeletions, AZF, NOA, TESE

Authors

First Name

Azza

Last Name

Ahmed

MiddleName

S.

Affiliation

Chesmistry Department, Faculty of Science, Cairo University, Egypt

Email

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City

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Orcid

-

First Name

Mohamed

Last Name

El-Dessouky

MiddleName

A.

Affiliation

Chesmistry Department, Faculty of Science, Cairo University, Egypt

Email

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City

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Orcid

-

First Name

Abdelgawad

Last Name

Fahmi

MiddleName

A.

Affiliation

Chesmistry Department, Faculty of Science, Cairo University, Egypt

Email

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City

-

Orcid

-

First Name

Fatma

Last Name

ElRefaey

MiddleName

A.

Affiliation

Clinical Pathology Department, National Cancer Institute, Cairo University, Egypt.

Email

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City

-

Orcid

-

First Name

Yasser

Last Name

ElNahass

MiddleName

H.

Affiliation

Clinical Pathology Department, National Cancer Institute, Cairo University, Egypt.

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Orcid

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Volume

36

Article Issue

1

Related Issue

5321

Issue Date

2019-04-01

Receive Date

2020-03-11

Publish Date

2019-04-01

Page Start

512

Page End

525

Print ISSN

2356-8364

Online ISSN

2356-8372

Article File

JSRS_Volume 36_Issue 1_Pages 512-525.pdf

PDF . 658.5kB

Link

https://jsrs.journals.ekb.eg/article_77051.html

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https://jsrs.journals.ekb.eg/service?article_code=77051

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33

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Original Article

Type Code

656

Publication Type

Journal

Publication Title

Journal of Scientific Research in Science

Publication Link

https://jsrs.journals.ekb.eg/

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Article

Created At

22 Jan 2023