Chromosomal studies in infertile men (original) (raw)
Related papers
[Chromosomal studies of male infertility]
Genetika, 2003
Prometaphase and metaphase chromosome analyses performed on 70 consecutive men with primary infertility (for a period of at least 2 years) revealed 8 (11.42%) men with some kind of chromosomal abnormality. The highest frequency of abnormal karyotypes (10%) was found among patients with azpospennia and the most frequent anomaly was 47, XXY chromosomal constitution, found in 6 (8.57%) patients. All the chromosomal aberrations found in this study was sex chromosomal type and we did not find any autosomal aberration. All patients with numerical chromosomal anomalies had azoospermia. The incidence of structural aberration in our study was 1.42%. Fifteen patients had different chromosomal variants (21.38%). We suggest that men with azoospermia should be considered for cytogenetic investigation and we report that "variants of the Y chromosome" have no influence on the sperm count (million/ml) and fertility of men.
Chromosomal abnormalities in 1663 infertile men with azoospermia: the clinical consequences
Human Reproduction, 2017
What is the prevalence of chromosomal abnormalities in azoospermic men and what are the clinical consequences in terms of increased risk for absent spermatogenesis, miscarriages and offspring with congenital malformations? SUMMARY ANSWER: The prevalence of chromosomal abnormalities in azoospermia was 14.4%, and the number of azoospermic men needed to be screened (NNS) to identify one man with a chromosomal abnormality with increased risk for absence of spermatogenesis was 72, to prevent one miscarriage 370-739 and to prevent one child with congenital malformations 4751-23 757. WHAT IS KNOWN ALREADY: Infertility guidelines worldwide advise screening of non-iatrogenic azoospermic men for chromosomal abnormalities, but only few data are available on the clinical consequences of this screening strategy.
Chromosomal Abnormality in Men with Impaired Spermatogenesis
International Journal of Fertility & Sterility, 2014
Background: Chromosomal abnormalities and Y chromosome microdeletions are regarded as two most frequent genetic causes associated with failure of spermatogenesis in the Caucasian population. Materials and Methods: To investigate the distribution of genetic defects in the Romanian population with azoospermia or severe oligozoospermia, karyotype analysis by G-banding was carried out in 850 idiopathic infertile men and in 49 fertile men with one or more children. Screening for microdeletions in the azoospermia factor (AZF) region of Y chromosome was performed by multiplex polymerase chain reaction (PCR) on a group of 67 patients with no detectable chromosomal abnormality. The results of the two groups were compared by a two-tailed Fisher’s exact test. Results: In our study chromosomal abnormalities were observed in 12.70% and 8.16% of infertile and fertile individuals respectively. Conclusion: Our data suggests that infertile men with severe azoospermia have higher incidences of geneti...
The prevalence of chromosomal abnormalities in subgroups of infertile men
Human Reproduction, 2012
background: The prevalence of chromosomal abnormalities is assumed to be higher in infertile men and inversely correlated with sperm concentration. Although guidelines advise karyotyping infertile men, karyotyping is costly, therefore it would be of benefit to identify men with the highest risk of chromosomal abnormalities, possibly by using parameters other than sperm concentration. The aim of this study was to evaluate several clinical parameters in azoospermic and non-azoospermic men, in order to assess the prevalence of chromosomal abnormalities in different subgroups of infertile men. methods: In a retrospective cohort of 1223 azoospermic men and men eligible for ICSI treatment, we studied sperm parameters, hormone levels and medical history for an association with chromosomal abnormalities.
Annales de génétique
To identify meiotic criteria for infertility management in non-obstructive azoospermic men, a prospective and multicentric study was organized in Andrological Departments of Paris (France), Roma (Italy) and Budapest (Hungary). In 117 non-obstructive azoospermic men with normal karyotype and no Y-chromosome microdeletion, histology and meiotic studies on bilateral bipolar testicular biopsies were done. Histologically, 40 patients (34%) presented spermatocyte or spermatid arrest, 39 (33%) hypospermatogenesis whereas no meiotic cell could be observed in the remaining patients (33%). Cytogenetically, meiotic figures could only be obtained from the two first histological groups. Meiotic abnormalities were observed in a total of 44 patients (37.6%) including nine patients (7.7%) with severe class I and class IIB anomalies and 19 patients (16.2%) with class IIC environmentally linked meiotic abnormalities. These results provided essential clues for an accurate clinical management. For pati...
Chromosomal defects in infertile men with poor semen quality
Journal of Assisted Reproduction and Genetics, 2012
Purpose To assess the incidence and the type of chromosomal aberrations in males with infertility we reviewed cytogenetic results in 76 Tunisian infertile men (54 nonobstructive azoospermia and 22 oligo-asthenospermia). Methods Karyotyping was performed on peripheral blood lymphocytes according to the standard methods. Molecular diagnosis of classical and partial Y-chromosomal microdeletions was performed by amplifying Y-specific STSs markers. Results Various numerical and structural chromosome abnormalities were identified in 15 patients (19.48%). The occurrence of chromosomal abnormality in the azoospermics and severe oligo-asthnospermic was 21.7% and 13.5%, respectively. The most common was Klinefelter syndrome, accounting for 10 of the 15 cytogenetic defects. The total frequency of Y chromosomal microdeletions was 17.1%, with respective frequencies in azoospermic and severe oligospermic groups, 11.1% and 31.8%. The most frequent of Y chromosomal deletions were the partial ones (11.1% in azoospermic and 27.2% in oligospermic). Conclusion The occurrence of chromosomal abnormalities among infertile males strongly suggests the need for routine genetic testing and counseling prior to the employment of assisted reproduction techniques. Keyword Male infertility. Chromosome abnormality. Klinefelter syndrome. Y microdeletions. Severe oligoasthenospermia. Azoospermia Capsule Cytogenetic results have been reviewed in 76 Tunisian infertile men in order to assess the incidence and the type of chromosomal aberrations in male with infertility.
Low number of Y-chromosome deletions in infertile azoospermic men at a Swedish andrology centre
International Journal of Andrology, 2000
Recent studies have strongly indicated that at least three regions [azoospermia factor (AZF) a±c] on the long arm of the Y-chromosome code for factors involved in spermatogenesis. In order to reveal the prevalence of microdeletions in these regions in a Swedish population, 192 men consecutively referred to our andrology unit due to infertility and showing oligozoospermia (n 53) or azoospermia (n 139) but no obstruction or hormonal disturbances, were investigated. For this study we used a multiplex polymerase chain reaction (PCR) method including 13 pairs of primers divided into ®ve different primer mixes. It was found that four men, all with azoospermia, had deletions including part of the AZFb region and probably the entire AZFc region. Testis biopsies showed different morphology ranging from absence of germ cells to hypospermatogenisis. Of special interest was one patient that was ®rst investigated 10 years ago due to primary infertility and oligozoospermia. Today he has developed azoospermia. It is concluded that the number of patients with microdeletions on the Y chromosome is rather low (less than 3% in highly selected azoospermic men) in our study compared to a number of other studies in which a 1±55% incidence have been reported. It is possible that ethnic differences, selection criteria and methodological aspects can contribute to the difference between the present and previous studies.
Cytogenetic Analysis of Male Infertility
2015
In order to assess the significance of chromosome abnormalities and polymorphic chromosomal variants in male infertility, the results of cytogenetic studies of 70 patients (16 azoospermic and 54 oligozoospermic men) were compared with those of 35 control fertile men. Total chromosome alterations were revealed in 31% of infertile men. Major chromosomal abnormalities had a 10-fold increase in infertile males compared to the control group. In azoospermics, the most prevalent were sex chromosomal abnormalities (47, XXY) (22.7%); mosaicism that is 47, XXY/48, XXYY was seen in one patient. One patient showed 46, XX karyotype and variations in Y chromosome was identified. Whereas in oligozoospemric men polymorphic variations were observed in chromosome 1, 9, Y and presence of satellite in chromosome 15 and 21 and robertsonian translocation (13/14) were also identified. The most frequently observed polymorphisms involved chromosome 9. In conclusion, chromosomal abnormalities found with a hi...
Chromosomal abnormalities in men with azoospermia
2021
Background: Infertility affects about 15 percent of all couples attempting pregnancy, with the man responsible in approximately half the cases. Azoospermia is detected in up to 8% of male infertility situations. The prevalence of chromosomal abnormalities is increased in azoospermic men. Material and methods: We performed cytogenetic analysis in a group of 128 infertile men with azoospermia from the Republic of Moldova during 2013-2018 period. Karyotyping was performed on peripheral blood lymphocytes according to standard methods of G-banding of metaphase chromosomes. For reporting the results, the 2016 International System of Cytogenetic Nomenclature was used. Results: Chromosomal variations were identified in 48 infertile men with azoospermia. In 38 cases were found abnormalities of gonosomes and in 10 cases abnormalities of autosomes. The most common sex chromosomal abnormality was Klinefelter syndrome: in 21 (55.3%, 95CI 47.23-63.37) cases homogeneous form 47,XXY and in 4 (10.5%, 95CI 5.52-15.48) cases mosaic form. Y-chromosome aberrations were also identified: in 7 (18.4%, 95CI 12.11-24.69) cases was noticed duplication of distal arm 46,XYqh+ and in 3 (7.9%, 95CI 3.53-12.27) cases deletion of the same arm 46,X,del(Y). Additionally, 45,X/46,XY and 46,XX karyotypes were found. Conclusions: 38% of the studied group have chromosomal variations that may explain the origin of infertility. All men with azoospermia should be offered cytogenetic screening followed by appropriate genetic counseling before infertility treatment.