Chromosomal abnormalities and Y chromosome microdeletions in infertile men from Morocco.

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

doi:10.1186/s12894-015-0089-3

Yassine Naasse, Hicham Charoute + Show 6 more

Open Access

https://doi.org/10.1186/s12894-015-0089-3

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Abstract

BackgroundMale 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.MethodsA 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.ResultsChromosomal 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.ConclusionsThese 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.

Highlights

Male infertility is responsible for 50 % of infertile couples
The Karyotype was performed for all patients, while the screening for Y-chromosomal microdeletions was conducted in 85 patients for whom DNA samples were available
This study was performed on a sample of 573 infertile men, which were separated into two groups: men with non-obstructive azoospermia (n = 444; 77.48 %), and men with severe oligospermia (n = 129; 22.52 %) (Table 1)

Summary

Introduction

Male infertility is responsible for 50 % of infertile couples. Thirty percent of male infertility is due to cytogenetic and genetic abnormalities. There are many and diverse causes of male infertility, including accidental causes, congenital birth defects, functional impairments, environmental pollutants, or genetic factors. The latter represents between 10 % and 15 % of severe male infertility [3, 4]. Chromosomal anomalies are considered as one of the most important causes of male infertility [5,6,7]. Their incidence is higher in infertile men than the general population (about 10 times) [8]. Chromosomal abnormalities (structural or numerical) are often detected in azoospermia and severe oligospermia [9], at frequencies ranging from 10 % to 23.62 % and from 1.10 % to 13.33 %, respectively [8, 10,11,12,13,14]

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