Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
BMC Urology
Published in: BMC Urology 1/2015

Open Access 01-12-2015 | Research article

Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco

Authors: Yassine Naasse, Hicham Charoute, Brahim El Houate, Chadli Elbekkay, Lunda Razoki, Abderrahim Malki, Abdelhamid Barakat, Hassan Rouba

Published in: BMC Urology | Issue 1/2015

Login to get access

Abstract

Background

Male infertility is responsible for 50 % of infertile couples. Thirty percent of male infertility is due to cytogenetic and genetic abnormalities. In Arab and North African populations, several studies have shown the association of these chromosomal abnormalities with male infertility. Our objective is to evaluate the frequency of chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco.

Methods

A total of 573 Moroccan infertile men (444 azoospermic and 129 oligozoospermic men) referred for cytogenetic analysis to the Department of Cytogenetics of the Pasteur Institute of Morocco, were screened for the presence of chromosomal abnormalities and Y chromosome microdeletions.

Results

Chromosomal abnormalities accounted for approximately 10.5 % (60/573). Fifty six cases among them have sex chromosome abnormalities (93.34 %), including Klinefelter’s syndrome in 41 patients (68.34 %). Autosomal chromosome abnormalities (6.66 %) were observed in 4 patients. Chromosomal abnormalities were more prevalent in azoospermic men (13.06 %) than in oligospermic men (1.55 %). Y microdeletions were detected in 16 of 85 patients (AZFc: 14.12 %, AZFbc: 4.70 %), most of them where azoospermic men with no chromosomal abnormality.

Conclusions

These results highlighted the need for efficient molecular genetic testing in male infertility diagnosis. In addition, a genetic screening should be performed in infertile men before starting assisted reproductive treatments.
Literature
1.
Van Assche E, Bonduelle M, Tournaye H, Joris H, Verheyen G, Devroey P, et al. Cytogenetics of infertile men. Hum Reprod. 1996;4:1–24.CrossRef
2.
Gurunath S, Pandian Z, Anderson RA, Bhattacharya S. Defining infertility – a systematic review of prevalence studies. Hum Reprod Update. 2011;17:575–88.CrossRefPubMed
3.
Kim ED, Lipshultz LI. Male subfertility: diagnostic and therapeutic advances. Br J Urol. 1997;80(4):633–41.CrossRefPubMed
4.
Ferlin A, Arredi B, Foresta C. Genetic causes of male infertility. Reprod Toxicol. 2006;22:133–41.CrossRefPubMed
5.
Kosar PA, Ozcelik N, Kosar A. Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia. J Assist Reprod Genet. 2010;27:17–21.CrossRefPubMedPubMedCentral
6.
Dohle GR, Halley DJ, Van Hemel JO, van den Ouwel AM, Pieters MH, Weber RF, et al. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod. 2002;17:13–6.CrossRefPubMed
7.
Martin RH. Cytogenetic determinants of male fertility. Hum Reprod Updat. 2008;14:379–90.CrossRef
8.
Ceylan GG, Ceylan C, Elyas H. Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: a prospective study. Genet Mol Res. 2009;8:915–22.CrossRefPubMed
9.
Chandley A. Chromosome anomalies and Y chromosome microdeletions as casual factors in male infertility. Hum Reprod. 1998;13:45–50.CrossRefPubMed
10.
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;25:559–65.CrossRefPubMedPubMedCentral
11.
Nagvenkar P, Desai K, Hinduja I, Zaveri K. Chromosomal studies in infertile men with oligozoospermia & non-obstructive azoospermia. Indian J Med Res. 2005;122:34–42.PubMed
12.
Ng PP, Tang MH, Lau ET, Ng LK, Ng EH, Tam PC, et al. Chromosomal anomalies and Y-microdeletions among Chinese subfertile men in Hong Kong. Hong Kong Med J. 2009;15:31–8.PubMed
13.
Chiang HS, Wei HJ, Chen YT. Genetic screening for patients with azoospermia and severe oligo-asthenospermia. Int J Androl. 2000;23:20–5.CrossRefPubMed
14.
Zhou-Cun A, Yang Y, Zhang SZ, Zhang W, Lin L. Chromosomal abnormality and Y chromosome microdeletion in Chinese patients with azoospermia or severe oligozoospermia. Yi Chuan Xue Bao. 2006;33:111–16.PubMed
15.
Krausz C, Degl’Innocenti S. Y chromosome and male infertility: update. Front Biosci. 2006;11:3049–61.CrossRefPubMed
16.
Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11.1. Hum Mol Genet. 1996;5:933–44.CrossRefPubMed
17.
Foresta C, Ferlin A, Garolla A, Moro E, Pistorello M, Barbaux S, et al. High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. Hum Reprod. 1998;13(2):302–07.CrossRefPubMed
18.
van der Ven K, Montag M, Peschka B, Leygraaf J, Schwanitz G, Haidl G, et al. Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Mol Hum Reprod. 1997;3:699–704.CrossRefPubMed
19.
Nakamura Y, Kitamura M, Nishimura K, Koga M, Kondoh N, Takeyama M, et al. Chromosomal variants among 1790 infertile men. Int J Urol. 2001;8:49–52.CrossRefPubMed
20.
Lissitsina J, Mikelsaar R, Punab M. Cytogenetic analyses in infertile men. Arch Androl. 2006;52:91–5.CrossRefPubMed
21.
Ghorbel M, Gargouri Baklouti S, Ben Abdallah F, Zribi N, Cherif M, Keskes R, et al. Chromosomal defects in infertile men with poor semen quality. J Assist Reprod Genet. 2012;29:451–56.CrossRefPubMedPubMedCentral
22.
Fayez AG, El-Sayed AS, El-Desouky MA, Zarouk WA, Kamel AK, Fahmi IM, et al. Molecular Characterization of Some Genetic Factors Controlling Spermatogenesis in Egyptian Patients with Male Infertility. Int J Infertility Fetal Med. 2012;3:69–77.CrossRef
23.
24.
Krausz C. Male infertility: pathogenesis and clinical diagnosis. Best Pract Res Clin Endocrinol Metab. 2011;25:271–85.CrossRefPubMed
25.
Ron-El R, Strassburger D, Gelman-Kohan S, Friedler S, Raziel A, Appelman Z. A 47, XXY fetus conceived after ICSI of spermatozoa from a patient with non-mosaic Klinefelter’s syndrome: case report. Hum Reprod. 2000;15(8):1804–06.CrossRefPubMed
26.
Valetto A, Bertini V, Rapalini E, Baldinotti F, Di Martino D, Simi P. Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man. Fertil Steril. 2004;81:1388–90.CrossRefPubMed
27.
Siffroi JP, Chantot-Bastaraud S, Ravel C. Genetic origin of spermatogenesis impairments: clinical aspects and relationships with mouse models of infertility. Gynecol Obstet Fertil. 2003;31:504–15.CrossRefPubMed
28.
Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 2006;118:488–500.CrossRef
29.
Boucekkine C, Toublanc JE, Abbas N, Chaabouni S, Ouahid S, Semrouni M, et al. Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. Clin Endocrinol (Oxford). 1994;40:733–42.CrossRef
30.
Amouri A, Hammami W, Kilani O, Bouzouita A, Ayed W, Ben Meftah M, et al. Chromosomal evaluation in a group of Tunisian patients with non-obstructive azoospermia and severe oligozoospermia attending a Tunisian cytogenetic department. C R Biologies. 2014;337:223–28.CrossRefPubMed
31.
Abramsky L, Chapple J. 47, XXY (Klinefelter syndrome) and 47, XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counseling. Prenat Diagn. 1997;17:363–68.CrossRefPubMed
32.
Zhang ZB, Jiang YT, Yun X, Yang X, Wang RX, Dai RL, 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;29:83–7.CrossRefPubMed
33.
Mohammed F, Al-Yatama F, Al-Bader M, Tayel SM, Gouda S, Naguib KK. Primary male infertility in Kuwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients. Andrologia. 2007;39:87–92.CrossRefPubMed
34.
Mafra FA, Christofolini DM, Bianco B, Gava MM, Glina S, Belangero SI, 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;37:244–50.CrossRefPubMed
35.
Imken L, El Houate B, Chafik A, Nahili H, Boulouiz R, Abidi O, et al. AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men. Asian J Androl. 2007;9:674–78.CrossRefPubMed
36.
Eloualid A, Rhaissi H, Reguig A, Bounaceur S, El Houate B, Abidi O, et al. Association of spermatogenic failure with the b2/b3 partial AZFc deletion. PLoS One. 2012;7:e34902.CrossRefPubMedPubMedCentral
37.
Tse JY, Yeung WS, Ng EH, Zhu HB, Teng XM, Liu YK, et al. A comparative study of Y chromosome microdeletions in infertile males from two Chinese populations. J Assist Reprod Genet. 2002;19:376–83.CrossRefPubMedPubMedCentral
38.
Tse JY, Yeung WS, Lau EY, Ng EH, So WW, Ho PC. Deletions within the azoospermia factor subregions of the Y chromosome in Hong Kong Chinese men with severe malefactor infertility: controlled clinical study. Hong Kong Med J. 2000;6:143–46.PubMed
39.
Hammami W, Kilani O, Ben Khelifa M, Ayed W, Abdelhak S, Bouzouita A, et al. Prevalence of Y chromosome microdeletions in infertile Tunisian men. Ann Biol Clin (Paris). 2014;72:331–6.
40.
Rejeb I, M’rad R, Maazoul F, Trabelsi M, Ben Jemaa L, Chaabouni M, et al. Y chromosome microdeletions in Tunisian infertile males. PatBio. 2008;56:111–5.
41.
Hellani A, Al-Hassan S, Iqbal M, Coskun S. Y chromosome microdeletions in infertile men with idiopathic oligo or azoospermia. J Exp Clin Assist Reprod. 2006;3:1–6.CrossRefPubMedPubMedCentral
42.
Nowier SR, El-sheikh MM, Rasool HAA, Ismail S. Prevalence of Y Chromosome Microdeletion in Males with Azospermia And Severe Oligospermia in Egypt. Res J Med Medical Sci. 2009;4:189.
43.
Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions. State of art 2004. Int J Androl. 2004;27:240–49.CrossRefPubMed
44.
Elhawary NA, Seif-Eldin NS, Zaki M, Diab H. Azoospermia factor microdeletions: common tag STSs in infertile men with azoospermia and sever oligospermia from Egypt. BMC Genomics. 2014;15:25.CrossRef
45.
Tuerlings J, de France HF, Hamers A, Hordijk R, Van Hemel JO, Hansson K, et al. Chromosome studies in 1792 males prior to intracytoplasmic sperm injection: the Dutch experience. Eur J Hum Genet. 1998;6:194–200.CrossRefPubMed
46.
Alkhalaf M, Al-Shoumer K. Cytogenetic abnormalities and azoospermia factor (AZF) microdeletions in infertile men from Kuwait. J Mol Genet Med. 2010;26:232–34.
47.
Cavkaytar S, Batioglu S, Gunel M, Ceylaner S, Karaer A. Genetic evaluation of severe male factor infertility in Turkey: a cross-sectional study. Hum Fertil. 2012;15:100–06.9.CrossRef
Metadata
Title
Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco
Authors
Yassine Naasse
Hicham Charoute
Brahim El Houate
Chadli Elbekkay
Lunda Razoki
Abderrahim Malki
Abdelhamid Barakat
Hassan Rouba
Publication date
01-12-2015
Publisher
BioMed Central
Published in
BMC Urology / Issue 1/2015
Electronic ISSN: 1471-2490
DOI
https://doi.org/10.1186/s12894-015-0089-3

Other articles of this Issue 1/2015

BMC Urology 1/2015 Go to the issue

Research article

A case control study of sarcosine as an early prostate cancer detection biomarker

Research article

A segregation index combining phenotypic (clinical characteristics) and genotypic (gene expression) biomarkers from a urine sample to triage out patients presenting with hematuria who have a low probability of urothelial carcinoma

Research article

Bioelectrical activity of the pelvic floor muscles during synchronous whole-body vibration – a randomized controlled study

Research article

Testicular prostheses in patients with testicular cancer - acceptance rate and patient satisfaction

Research article

Reliability of pelvic floor muscle strength assessment in healthy continent women

Erratum

Erratum to: The impact of tumour size on the probability of synchronous metastasis and survival in renal cell carcinoma patients: a population-based study