High prevalence of genetic abnormalities in Middle Eastern patients with idiopathic non-obstructive azoospermia.

Abstract

INTRODUCTION:

Our objective is to detect the frequency and types of major genetic abnormalities of idiopathic non-obstructive azoospermia (NOA) to give appropriate genetic counseling before assisted reproductive techniques (ART) in Middle East and to compare the frequencies with other regions of the world.

MATERIAL AND METHODS:

A total of 880 Middle Eastern patients with NOA were recruited in this multicenter study for genetic evaluation prior to use of ART. Karyotyping was performed on peripheral blood lymphocytes according to standard G-banding methods, polymerase chain reaction (PCR) was performed to screen the microdeletions in the AZF region of the Y chromosome.

RESULTS:

The present study shows that the total prevalence of genetic abnormalities is 28.41 %, including 184 patients (20.91 %) with chromosome disorder and 66 patients (7.5 %) with Y chromosome microdeletions. The most prevalent chromosome abnormality is Klinefelter's syndrome, which includes 161 patients (18.3 %), 7 patients had XX reversal male sex (0.8 %), 2 patients had 47XYY (0.23 %) and 2 patients had 45XO/46XY (0.23 %). Structural abnormalities occurred in 12 patients (1.36 %).

CONCLUSIONS:

The high prevalence of genetic abnormalities (28.41 %) in our study strongly suggests the need for routine genetic testing and counseling prior to assisted reproduction in such population with idiopathic infertility, as a result may help determine the prognosis, as well as the choice of ART. Moreover it allows specific pre-implantation genetic testing to minimize the risk of transmitting genetic defects to offspring.

• Authors: Marwan Alhalabi, Mazen Kenj, Fawza Monem, Zaina Mahayri, Ghalia Abou Alchamat, Ammar Madania
• Journal: Journal of assisted reproduction and genetics (J Assist Reprod Genet) Vol. 30 Issue 6 Pg. 799-805 (Jun 2013) ISSN: 1573-7330 [Electronic] Netherlands
• PMID: 23615726 (Publication Type: Journal Article)

Topics

• Azoospermia (genetics, pathology)
• Chromosome Aberrations
• Chromosome Deletion
• Chromosomes, Human, Y (genetics)
• Genetic Testing
• Humans
• Infertility, Male (genetics)
• Male
• Middle East
• Prevalence
• Reproductive Techniques, Assisted
• Sex Chromosome Aberrations
• Sex Chromosome Disorders of Sex Development (genetics)