The human Y chromosome is essential for human sex determination and spermatogenesis. The long arm contains the azoospermia factor (AZF) region. Microdeletions in this region are responsible for male infertility. The objective of this study was to determine the frequency of Y microdeletions in Algerian infertile males with azoospermia and oligoasthenoteratozoospermia syndrome (OATS) and to compare the prevalence of these abnormalities with other countries and regions worldwide. A sample of 80 Algerian infertile males with a low sperm count (1-20 × 106 sperms/ml) as well as 20 fertile male controls was screened for Y chromosome microdeletions. 49 men were azoospermic and 31 men had OATS. Genomic DNA was isolated from blood and polymerase chain reaction was carried out with a set of 6 AZFa, AZFb and AZFc STS markers to detect the microdeletions as recommended by the European Academy of Andrology. Among the 80 infertile men screened for microdeletion, 1 subject was found to have microdeletions in the AZFc (sY254 and sY255) region. The deletion was found in azoospermic subjects (1/49, 2%). The overall AZF deletion frequency was low (1/80, 1.3%). AZF microdeletions were observed neither in the OATS group nor in the control group. The frequency of AZF microdeletions in infertile men from Algeria was comparable to those reported in the literature. We suggest analyzing 6 STS in the first step to detect Y microdeletions in our population.

Keywords:
Infertility, Azoospermia, Oligoasthenoteratozoospermia, Microdeletion, Azoospermia factor region
1.
Balkan M, Tekes S, Gedik A: Cytogenetic and Y chromosome microdeletion screening studies in infertile males with oligozoospermia and azoospermia in Southeast Turkey. J Assist Reprod Genet 2008;25:559-565.
2.
Zhu YJ, Liu SY, Wang H, et al: The prevalence of azoospermia factor microdeletion on the Y chromosome of Chinese infertile men detected by multi-analyte suspension array technology. Asian J Androl 2008;10:873-881.
3.
Nagvenkar P, Desai K, Hinduja I, et al: Chromosomal studies in infertile men with oligozoospermia and non-obstructive azoospermia. Indian J Med Res 2005;122:34-42.
4.
Samli H, Solak M, Imirzalioglu N, et al: Genetic anomalies detected in patients with non-obstructive azoospermia and oligozoospermia. Med J Kocatepe 2005;6:7-11.
5.
Dada R, Gupta NP, Kucheria K: Cytogenetic and molecular analysis of male infertility Y chromosome deletion during nonobstructive azoospermia and severe oligozoospermia. Cell Biochem Biophys 2006;44:171-177.
6.
Hellani A, Al-Hassan S, Iqbal M, et al: Y chromosome microdeletions in infertile men with idiopathic oligo- or azoospermia. J Exp Clin Assist Reprod 2006;30:1-6.
7.
Zamani AG, Kutlu R, Durakbasi-Dursun HG, et al: Y chromosome microdeletions in Turkish infertile men. Indian J Hum Genet 2006;12:66-71.
8.
Vutyavanich T, Piromlertamorn W, Sirirungsi W, et al: Frequency of Y chromosome microdeletions and chromosomal abnormalities in infertile Thai men with oligozoospermia and azoospermia. Asian J Androl 2007;9:68-75.
9.
Krausz C, Degl'Innocenti S: Y chromosome and male infertility: update 2006. Front Biosci 2006;11:3049-3061.
10.
Li Z, Haines CJ, Han Y: ‘Micro-deletions' of the human Y chromosome and their relationship with male infertility. J Genet Genomics 2008;35:193-199.
11.
World Health Organization: Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction, ed 4. Cambridge, Cambridge University Press, 1999.
12.
Simoni M, Bakker E, Eurling MCM, et al: Laboratory guidelines for molecular diagnosis of Y chromosomal microdeletions. Int J Androl 1999;22:292-299.
13.
Lee JY, Dada R, Sabanegh E, et al: Role of genetics in azoospermia. Urology 2011;77:598-601.
14.
National Reference Laboratory: Y Chromosome Microdeletions: to Determine the Etiology of Azoospermia or Oligospermia Resulting in Male Infertility. Salt Lake City, ARUP Laboratories, 2009.
15.
Fernanda AM, Denise MC, Bianca B, et al: Chromosomal and molecular abnormalities in a group of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia attending an infertility service. Int Braz J Urol 2011;37:244-245.
16.
El Awady MK, El Shater SF, Ragaa E, et al: Molecular study on Y chromosome microdeletions in Egyptian males with idiopathic infertility. Asian J Androl 2004;6:53-57.
17.
Rejeb I, M'rad R, Maazoul F, et al: Y chromosome microdeletions in Tunisian infertile males. Pathol Biol 2008;56:111-115.
18.
Imken L, El Houate B, Chafik A, et al: AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men. Asian J Androl 2007;9:674-678.
19.
Arruda JT, Bordin BM, Santos PR, et al: Y chromosome microdeletions in Brazilian fertility clinic patients. Genet Mol Res 2007;6:461-469.
20.
SaoPedro SL, Fraietta R, Spaine D, et al: Prevalence of Y chromosome deletions in a Brazilian population of non-obstructive azoospermic and severely oligozoospermic men. Braz J Med Biol Res 2003;36:787-793.
21.
Pina-Neto JM, Carrara RC, Bisinella R, et al: Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men. Braz J Med Biol Res 2006;39:555-561.
22.
Mirfakhraie R, Mirzajani F, Kalantar SM, et al: High prevalence of AZFb microdeletion in Iranian patients with idiopathic non-obstructive azoospermia. Indian J Med Res 2010;132:265-270.
23.
Krausz C, Forti G, McElreavey K: The Y chromosome and male fertility and infertility. Int J Androl 2003;26:70-75.
24.
Ferlin A, Moro E, Rossi A, et al: The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet 2003;40:18-24.
25.
Ferlin A, Arredi B, Foresta C: Genetic causes of male infertility. Reprod Toxicol 2006;22:133-141.
26.
Wang RX, Fu C, Yang YP, et al: Male infertility in China: laboratory finding for AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China. J Assist Reprod Genet 2010;27:391-396.
27.
Oates RD, Silber S, Brown LG, et al: Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum Reprod 2002;11:2813-2824.
28.
Zhang ZB, Jiang YT, Yun X, et al: Male infertility in Northeast China: a cytogenetic study of 135 patients with non-obstructive azoospermia and severe oligozoospermia. J Assist Reprod Genet 2012;29:83-87.
29.
Wang XQ, Zhang HY, Qi QW, et al: Relationship between follicle stimulating hormone and AZF microdeletion on Y chromosome in patients with azoospermia or severe oligozoospermia. Chin J Med Genet 2011;28:559-561.
30.
Aknin-Seifer IE, Touraine RL: A simple low cost and noninvasive method for screening Y-chromosome microdeletions in infertile men. Hum Reprod 2003;18:257-261.
© 2013 S. Karger AG, Basel
2013
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.