Chromosome studies in 496 infertile males with a sperm count below 10 million/ml

University of Stellenbosch
Human Genetics (Impact Factor: 4.82). 02/1984; 66(2-3):162-4. DOI: 10.1007/BF00286592
Source: PubMed


Chromosome studies were performed on 106 men with azoospermia and 390 men with oligozoospermia (consistent sperm count below 10 million/ml). Constitutional chromosome abnormalities were found in 14.1% of the azoospermia group and in 5.1% of the oligozoospermia group. An overall incidence of 7.1% constitutional abnormalities indicates that this criterion of selection may be advisable for routine chromosome analysis of infertile men. A reduction of 25% in the workload increases the yield of chromosome abnormalities in the group of infertile men to 10-14 times above that expected in the normal population.

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    • "Male infertility has been linked with numerous parameters including sperm number, motility and morphology. It has been demonstrated that 5 to 7% of patients with sperm count below 10 millions/ml have chromosomal aberrations, increasing to 10 to 15% in patients with azoospermia (Retief et al., 1984; Ravel et al., 2006). In about 60% of infertile men, no cause is found for low sperm counts or inadequate production of sperm with normal motility, morphology and function Afr. "
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    ABSTRACT: Chromosomal aberrations have been postulated to be one of the principal genetic factors in male infertility and occur in about 2 to 3% of unselected patients with proven sub-fertility. This rate is estimated to be 5 to 7% in patients with oligospermia, increasing to 10 to 15% in patients with azoospermia. The aim of this study was to report the frequency of all chromosomal aberrations among Iranian infertile men. In this 20-year retrospective study, we investigated 829 men which were referred to our department due to infertility. Karyotyping was performed on peripheral blood lymphocytes according to standard methods. Out of 829 patients, 557 patients (67.19%) had normal karyotype and 272 patients (32.81%) showed abnormal chromosomes. Klineferlter syndrome, found in 195 patients (23.52%), was the most frequent aberration in our study. The remaining 77 cases (9.29%) showed a variety of abnormal karyotypes.
    Full-text · Article · May 2012 · AFRICAN JOURNAL OF BIOTECHNOLOGY
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    • "The most common chromosomal abnormality in these studies was Klinefelter's syndrome followed by Yq deletions (Nakamura et al, 2001; Poongothai et al, 2009). A 7.1% of major chromosomal abnormalities was reported in 496 infertile males, of which 21% were azoospermic (Retief et al. 1984). Bourrouillou et al., found a higher incidence (10.3%) in 952 infertile males, but in this study 40% of patients were azoospermic. "
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    ABSTRACT: Male factor accounts for infertility in 10% of couples of reproductive age worldwide and is treatable in many cases. The etiology of male infertility is complex and may include anatomical problems, imbalance in levels of gonadal steroids and gonadotropic hormones, and genetic causes. It is demonstrated that infertile men have an increased frequency of chromosome abnormalities and gene disorders that make a significant contribution to male infertility. The aim of this study is to investigate the contribution of chromosomal abnormalities in patients with abnormal spermatozoa. Each infertile male referred with sperm count less than 5 x 10 6 /ml and increased abnormal sperm morphology. This study included 150 infertile males diagnosed to have azoospermia (AZF) (n=125), oligoasthenozoospermia (OAT) (n=22), severe oligoasthenozoospermia (SOAT) (n=2), and globozoospermia (n=1). Chromosomal abnormalities were detected in 5 (3.3%) and polymorphisms in 11 (7.3%) patients. Chromosomal abnormalities include sex chromosome aneuploidy (Klinefelter syndrome, 47,XXY), Robertsonian translocation [45,XY,t(13;14)(q10;10)], and a deletion, 46,X,del(Y)(q11.2). Polymorphisms included a pericentric inversion on chromosome 9 and increase in the length of heterochromatic segments -1qh+, 9qh+, 15p+, 21p+, 22p+ and Yqh+.
    Full-text · Article · Jun 2011 · International Journal of Human Genetics
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    • "In patients with sperm counts below 10 million/ml, this rate is estimated to be 5 – 7%, with the percentage of cytogenetically abnormal causes rising up to 10 – 15% in azoospermic men (2). "
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    ABSTRACT: The prevalence of somatic chromosomal abnormalities in infertile male individuals has been reported to vary in different literatures. The aim of this study was to investigate the frequency of chromosomal aberrations among infertile men referred to the Cytogenetic Laboratory of Iran Blood Transfusion Organization Research Centre (IBTO). Chromosomal analysis was performed on phytohemag-glutinin (PHA)-stimulated peripheral lymphocyte cultures of 1052 infertile men using standard cytogenetic methods. The study took place during 1997 to 2007. Total chromosome alterations were revealed in 161 (15.30%) infertile men. The most prevalent chromosomal abnormality in the infertile men was 47, XXY, that was seen in 94 (58.38%) men while one of them had a mosaic karyotype: mos 47, XX[54]/47,XXY[18]/46,XY[9]. In 37 (22.98%) cases, structural aberrations were detected. There were 30 (18.63%) cases of sex reversal. Cytogenetic studies of these patients showed increased chromosomal abnormalities in infertile men in comparison with that of the normal population, justifying the need for cytogenetic analysis of men with idiopathic infertility.
    Full-text · Article · Oct 2010 · Journal of Reproduction and Infertility
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