Chromosomal abnormalities in 1663 infertile men with azoospermia: the clinical consequences (original) (raw)
Related papers
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.
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.
Sao Paulo Medical Journal, 2023
Male infertility is defined as the biological inability of a man to induce pregnancy in a fertile woman after unprotected sexual intercourse for at least one year. 1 A study of a North American population revealed that 12% of male individuals aged 15-44 years are infertile. 2 The main factors related to infertility include obesity, infection, neoplasms, cryptorchidism, smoking, varicocele, chromosomal anomalies, sperm duct defects, scrotal exposure to high temperatures, hormonal imbalances, celiac disease, medications, heavy metal poisoning, and exposure to ionizing radiation. 3-5 Regarding the genetic causes of male infertility, approximately 15-20% of men with severe non-obstructive azoospermia or oligospermia have microdeletions on the long arm of the Y chromosome (AZFa, b, or c regions) where the spermatogenesis genes are located. 6,7 Some cases of male infertility may also be related to disorders of sex development (DSD), such as Klinefelter syndrome (KS), testicular 46,XX DSD, and disorders related to the synthesis or action of testicular hormones. 8 Currently available DSD cohorts in the literature mostly include pediatric patients, with genital ambiguity being the main reason for referral. 9,10 In contrast, studies of genetic causes of male infertility have mainly focused on chromosomal anomalies and Yq microdeletions. 11,12 In these studies, as well as in the guidelines on male infertility, 3 DSD are not specifically considered a cause. A recent study by our group of 84 men with non-obstructive infertility (azoospermia or severe oligospermia) showed that 10 (12%) had KS, 1 had testicular DSD 46,XX, and 1 had mild
International braz j …, 2011
Purpose: To determine the frequency of genetic alterations in a population of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia. Materials and Methods: Retrospective study of a group of 143 infertile men with severe oligozoospermia or non-obstructive azoospermia from the Andrology Outpatient Clinic of the Human Reproduction Service at the ABC School of Medicine. Of these patients, 100 had severe oligozoospermia, and 43 non-obstructive azoospermia. All patients underwent a genetic study which included karyotype analysis and Y-microdeletion investigation. Results: Genetic abnormalities were found in 18.8% of the studied patients. Chromosomal abnormalities were found in 6.2% of the patients, being more prevalent in the azoospermia group (11.6%) than in the oligozoospermia group (4%). Chromosomal variants were found in 8.3%, and Y-chromosome microdeletions in 4.2% of patients. Conclusion: The high frequency of genetic alterations (18.8%) in our series justified performing a genetic investigation in a population with idiopathic infertility, as results may help determine the prognosis, as well as the choice of an assisted reproduction technique. Moreover, a genetic investigation could minimize the risk of transmitting genetic abnormalities to future generations such as genetic male infertility, mental retardation, genital ambiguity and/or birth defects.
International braz j urol, 2011
Purpose: To determine the frequency of genetic alterations in a population of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia. Materials and Methods: Retrospective study of a group of 143 infertile men with severe oligozoospermia or non-obstructive azoospermia from the Andrology Outpatient Clinic of the Human Reproduction Service at the ABC School of Medicine. Of these patients, 100 had severe oligozoospermia, and 43 non-obstructive azoospermia. All patients underwent a genetic study which included karyotype analysis and Y-microdeletion investigation. Results: Genetic abnormalities were found in 18.8% of the studied patients. Chromosomal abnormalities were found in 6.2% of the patients, being more prevalent in the azoospermia group (11.6%) than in the oligozoospermia group (4%). Chromosomal variants were found in 8.3%, and Y-chromosome microdeletions in 4.2% of patients. Conclusion: The high frequency of genetic alterations (18.8%) in our series justified performing a genetic investigation in a population with idiopathic infertility, as results may help determine the prognosis, as well as the choice of an assisted reproduction technique. Moreover, a genetic investigation could minimize the risk of transmitting genetic abnormalities to future generations such as genetic male infertility, mental retardation, genital ambiguity and/or birth defects.
Molecular Genetic and Laboratory Findings in Infertile Men with Non-Obstructive Azoospermia
Sohag Medical Journal, 2017
Objectives:To study therelationship between Y-chromosome microdeletions withclinicaland laboratory findings in infertile men with non-obstructive azoospermia (NOA). Design: Cross-sectionalstudy. Patients: Infertile men withnon-obstructive azoospermia (n = 146). Methods: Clinical evaluation and scrotal colour Doppler ultrasonography were evaluated. Standard semen analysis andserum levels of hormones(FSH, LH, total testosterone and prolactin) were performed. Multiplex PCR was done for detection of Y chromosome microdeletions. Results:AZF deletions were detected in 9.59% of azoospermic men.CompleteAZFc was detected in 2.05% of azoospermic men.Partial AZFc deletions were found in 7.5% of azoospermic men, with gr/gr deletion in 6.85% and b2/b3 deletion in 0.69%.There was no significant difference between patients with AZF deletions and azoospermic men without deletions as regards testicular volume and serum levels of reproductive hormones. Conclusions:Microdeletions of Y chromosome may play a role in pathogenesis of NOA. The testicular volumes as well as levels of reproductive hormoneswere not correlated with the finding of Y chromosome microdeletions.
Journal of Assisted Reproduction and Genetics, 2010
Purpose To find the frequency and types of major chromosomal abnormalities with nonobstructive azoospermia and severe oligozoospermia to give appropriate genetic counseling before assisted reproduction techniques in Isparta (South of Turkey), and to investigate the general characteristics in this infertile male population. Methods and patients A total of 115 infertile males (92 were azoospermic, 23 severe oligospermic) were studied for the cytogenetic evaluation prior to use of assisted reproduction techniques. Also, 60 fertile males as a control group were studied. Karyotyping was performed on peripheral blood lymphocytes according to the standard methods. Levels of luteinising hormone, follicle-stimulating hormone (FSH), testosterone and prolactin were obtained and a testicular sonography examination was conducted. Results The total prevalence of chromosomal abnormalities was found to be 4.3% (5/115), including 4 patients with Klinefelter's Syndrome and 1 patient with gonadal dysygenesis (46XX). All of them were azoospermic males, corresponding to a frequency of 5.4% (5/92 patients). Oligozoospermic males and control males had no chromosomal abnormalities. There was a significant difference in serum FSH, LH, mean testicular volume and smoking when comparing patients (both azoospermic and oligozoospermic) and control groups (p<0.05). Also, there was a significant difference in serum FSH, LH and mean testicular volume when compared with azoospermic and oligozoospermic patients (p<0.05) Conclusions 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. Keywords Male infertility. Chromosome. Azoospermia. Oligozoospermia. Cytogenetic abnormality Capsule A select population of infertile azoospermic males was found to exhibit a high incidence of chromosomal abnormalities relative to oligospermic and control males warranting genetic screening for this group of patients.
Chromosome analysis of epididymal and testicular spermatozoa in patients with azoospermia
European Journal of Human Genetics, 2002
Azoospermic patients can now father children once spermatozoa have been retrieved from the epididymis or the testis. However, there are concerns about the risk of chromosomal abnormalities since an increase in sperm aneuploidy rate has been reported in samples from patients with abnormal sperm parameters. The purpose of this study was therefore to evaluate the sperm aneuploidy and diploidy rates for chromosomes 8, 12, 18, X and Y in spermatozoa extracted from the epididymes (n=10) or the testes (n=6) of patients with azoospermia. Ejaculated spermatozoa of healthy men (n=14) served as control. Epididymal and testicular spermatozoa had an aneuploidy rate significantly higher than that found in ejaculated spermatozoa. The aneuploidy and diploidy rates of testicular spermatozoa were higher, but not significantly different, than those found in epididymal spermatozoa. This study has shown that azoospermic patients have an increased sperm aneuploidy rate. They should therefore be given appropriate genetic counselling before entering in-vitro fertilisation programs.
Differential Diagnosis of Azoospermia in Men with Infertility
Journal of Clinical Medicine
The differential diagnosis between obstructive and nonobstructive azoospermia is the first step in the clinical management of azoospermic patients with infertility. It includes a detailed medical history and physical examination, semen analysis, hormonal assessment, genetic tests, and imaging studies. A testicular biopsy is reserved for the cases of doubt, mainly in patients whose history, physical examination, and endocrine analysis are inconclusive. The latter should be combined with sperm extraction for possible sperm cryopreservation. We present a detailed analysis on how to make the azoospermia differential diagnosis and discuss three clinical cases where the differential diagnosis was challenging. A coordinated effort involving reproductive urologists/andrologists, geneticists, pathologists, and embryologists will offer the best diagnostic path for men with azoospermia.