scholarly journals Molecular microdeletion analysis of infertile men with karyotypic Y chromosome abnormalities

2017 ◽  
Vol 46 (1) ◽  
pp. 307-315 ◽  
Author(s):  
Yuan Pan ◽  
Hong-guo Zhang ◽  
QI Xi ◽  
Han Zhang ◽  
Rui-xue Wang ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Chromosome Abnormality ◽  
Karyotype Analysis ◽  
Northeastern China ◽  
Chromosome Abnormalities ◽  
Infertile Male ◽  
Metaphase Chromosomes ◽  
Sequence Tagged Sites ◽  
Infertile Men ◽  
Male Patients

Objectives To investigate azoospermic factor (AZF) microdeletions in infertile men from northeastern China with karyotypic Y chromosome abnormalities. Methods G-banding of metaphase chromosomes and karyotype analysis were performed in all infertile male patients. Genomic DNA was isolated and used to analyze classical AZF microdeletions by PCR. The regions and sequence-tagged sites of AZFa (SY86, SY84), AZFb (SY127, SY134, SY143), and AZFc (SY152, SY254, SY255, SY157) were sequenced by multiplex PCR. Results A total of 190 Y chromosome abnormality carriers were found, of whom 35 had AZF microdeletions. These were most common in 46,X,Yqh− patients, followed by 45,X/46,XY patients. Most microdeletions were detected in the AZFb + c region, including 48.57% of all AZF microdeletion cases. AZF partial deletions were also seen in these patients. Overall, AZF microdeletions were detected in 38.5% Y chromosome abnormality carriers, and most were observed in 46,X,Yqh− individuals. Loss of SY152 was seen in all 35 patients, with SY254/SY255 detected in 34 of 35 patients. Conclusions AZF microdeletions were detected in 38.5% of Y chromosome abnormality carriers. This indicates that AZF microdeletion screening is advisable for individuals with karyotypic Y chromosome abnormalities.

Evaluation of Y chromosome microdeletions and chromosomal anomalies in infertile men

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Ozlem Oz
Keyword(s):  
Y Chromosome ◽  
Banding Technique ◽  
Chromosomal Anomalies ◽  
Specific Sequence ◽  
Sequence Tagged Sites ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Male Patients ◽  
Patient Selection Criteria ◽  
Methodological Aspects

Abstract Objectives Chromosome anomalies and Y chromosome microdeletions are one of the reasons that can be seen in infertile patients and affect fertility. In this study, it was aimed to determine the frequencies of chromosomal anomalies and Y chromosome microdeletions in primary infertile male patients. Methods We included 374 patients with primary infertility in this study. Cytogenetic analysis was performed with the GTG banding technique by using trypsin and Giemsa stain. Y microdeletion analysis was studied by multiplex polymerase chain reaction using 28 Y chromosome-specific sequence-tagged sites. Results Chromosomal irregularities were detected in 27 (7.22%) of infertile cases. It was observed that 7 (25.92%) of chromosomal irregularities detected in cases were in autosomal and 20 (%74.08) were in gonosomal chromosomes. The incidence of Y chromosome microdeletion was 1.07% (4/374) and the microdeletions were observed in AZFb, AZFc and AZFd regions. AZFc + AZFd deletion was detected in three patients (0.81%) and AZFb + AZFc + AZFd deletion in one patient (0.26%). Conclusions In conclusion, gonosomal chromosome irregularity was higher than autosomal chromosome irregularity in infertile men. The frequency of Y microdeletion has different rates according to some factors such as ethnic differences of patients, patient selection criteria, differences in the number of cases, and methodological aspects.

Detection Y Chromosome Microdeletions Among Iraq Population in Infertile Patients with Azoospermia and Severe Oligospermia

2019 ◽  
Vol 9 (02) ◽  
Author(s):  
Samah A Hammood ◽  
Alaauldeen S M AL-Sallami ◽  
Saleh M Al-Khafaji
Keyword(s):  
Y Chromosome ◽  
Karyotype Analysis ◽  
Semen Analysis ◽  
Obstructive Azoospermia ◽  
Severe Oligozoospermia ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Detailed Evaluation ◽  
Health Organization ◽  
Infertile Patients

Objective: To detection of microdeletions of Y chromosome and study the frequency of microdeletions in infertile men with non-obstructive azoospermia or severe oligozoospermia(Middle Euphrates center)in Iraq population. Material and methods: 153 males were included in the study, the casesweredivided into groups according to the infertility etiology and semen analysis according to Word health organization, the frequencies and the characteristicsof Y chromosome microdeletions were investigated in groups. Multiplex PCR was applied to detect the microdeletions. Results:Y chromosome microdeletion was detected in 42 (40.7%) of 153 cases ,Microdeletions in azoospermia showed more frequently detected 28 (52.8%), followed by severe oligospermia 14 (28 %),Microdeletions in the AZFc region were the most common 12 (22.64%), followed by AZFb 11(20.75%) and AZFa 5(9.43%) in azoospermia compared to severe oligospermisAZFc 6 (12%) AZFb 4 (8 %) and AZFa 4 (8%). Conclusion: Y chromosome microdeletions were detected quite frequently in certain infertility subgroups. Therefore, detailed evaluation of an infertile man by physical examination, semen analysis, hormonal evaluationsand when required, karyotype analysis may predict the patients for whom Y chromosome microdeletionanalysis is necessary and also prevent cost increases. Recommendation: This study emphasizes that analysis of microdeletions should be carried out for all patients with idiopathic azoospermia and severe oligospermia who are candidates for intracytoplasmic sperm injection

scholarly journals Chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia in Eastern China

2019 ◽  
Vol 48 (4) ◽  
pp. 030006051989671
Author(s):  
Jing Sha ◽  
Guiping Huang ◽  
Bei Zhang ◽  
Xia Wang ◽  
Zaochun Xu ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Assisted Reproduction ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Eastern China ◽  
Peripheral Blood Lymphocytes ◽  
Specific Sequence ◽  
Sequence Tagged Sites ◽  
Infertile Men ◽  
Y Chromosome Microdeletions

Objective The objective was to investigate the frequency and type of chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia to ensure appropriate genetic counseling before assisted reproduction in Eastern China. Methods A total of 201 infertile men (148 with azoospermia and 53 with oligozoospermia) were enrolled. Real-time PCR using six Y-specific sequence-tagged sites of the azoospermia factor (AZF) region was performed to screen for microdeletions. Karyotype analyses were performed on peripheral blood lymphocytes with standard G-banding. Results Out of 201 infertile patients, 22 (10.95%) had Y microdeletions [17/148 (11.49%) men with azoospermia and 5/53 (9.43%) men with oligozoospermia]. The most frequent microdeletions were in the AZFc region, followed by the AZFa+b + c, AZFb+c, AZFa, and AZFb regions. Chromosomal abnormalities were detected in 18.91% (38/201) of patients, 34 of which were sex chromosome abnormalities (16.92%) and 4 of which were autosomal abnormalities (1.99%). Chromosomal abnormalities were more prevalent in men with azoospermia (22.97%) than in those with oligozoospermia (7.55%). Conclusions We detected a high incidence of chromosomal abnormalities and Y chromosomal microdeletions in infertile Chinese men with azoospermia and oligozoospermia. These findings suggest the need for genetic testing before the use of assisted reproduction techniques.

Analysis of Y Chromosome Microdeletion in 1738 Infertile Men From Northeastern China

Urology ◽  
2013 ◽  
Vol 82 (3) ◽  
pp. 584-588 ◽  
Author(s):  
Yong-Sheng Zhang ◽  
Ru-Lin Dai ◽  
Rui-Xue Wang ◽  
Hong-Guo Zhang ◽  
Shuang Chen ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Northeastern China ◽  
Y Chromosome Microdeletion ◽  
Infertile Men

scholarly journals Male Subfertility; Challenges and advancement in the andrology clinic at Khyber Pakhtunkhwa, Pakistan

2021 ◽  
Vol 6 (6) ◽  
pp. 8-14
Author(s):  
Mir Abid Jan ◽  
Arshad Arshad ◽  
Majid Khan Kakakhel ◽  
Muhammad Hamid
Keyword(s):  
Male Infertility ◽  
Medical Treatment ◽  
Infertility Treatment ◽  
Infertile Male ◽  
Secondary Infertility ◽  
Male Subfertility ◽  
Mean Delay ◽  
Infertile Men ◽  
Male Patients ◽  
The Mean

Objective:  This study is aimed to discuss the challenges in dealing the infertile male and advances in the treatment of male infertility. Material and methods: The study included infertile male patients who presented to andrology outpatient as primary or secondary infertility between December 2018 and January 2021. The data detailed different aspects of challenges and advances in male infertility treatment. The data analysisone with SPSS. Results: Total 289 patients included, most of them (74%) presented as primary infertility and a quarter presented as secondary infertility. The mean delay in presentation was 6.8 years which were due to treatment from non-andrologist doctors of different specialities (53.9%), hakims (15.2%), quacks (13.8%), gynaecologists (10.3%) and some were reluctant to tell their problem (6.5%). The diagnosis was N.O.A (42.9%), unexplained infertility (24.2%), varicocele (22.8%), OA (6.2%), OAT syndrome (2.7%) and CABVD (1%). Different treatment option opted were vasography plus vasovasostomy or vasoepididmostomy (31.1%), ART (23.9%), MSV (22.8%) and medical treatment (22.1%). Vasography plus vasovasostomy or vasoepididmostomy and medical treatment were the available options provided. There was no ART facility and those who were counseled for referral either their unwillingness or cost resulted in a hurdle in their provision. Conclusion: There are still a number of challenges in treating infertile men. Recently provision of medical and microsurgical treatment at andrology clinic resulted in proper treatment of a large number of infertile men who previously received treatment from un- related facilities.

Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients

2017 ◽  
Vol 153 (4) ◽  
pp. 190-197 ◽  
Author(s):  
Shin Y. Kim ◽  
Bom Y. Lee ◽  
Ah R. Oh ◽  
So Y. Park ◽  
Hyo S. Lee ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Klinefelter Syndrome ◽  
Nonobstructive Azoospermia ◽  
Specific Sequence ◽  
Azoospermia Factor ◽  
Sequence Tagged Sites ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Genetic Abnormalities ◽  
Azf Region

To investigate the clinical, hormonal, and genetic factors in infertile men with idiopathic nonobstructive azoospermia (NOA) or azoospermic Klinefelter syndrome (KFS), a total of 556 and 96 patients, respectively, were included in this study. All patient samples were analyzed cytogenetically. Serum reproductive hormone levels were measured. Microdeletions in the azoospermia factor (AZF) region of the Y chromosome were detected by multiplex PCR using 16 specific sequence-tagged sites. FSH and LH levels in both NOA and KFS patients were significantly higher than the normal range, and the testosterone level in KFS patients was significantly lower. Ninety-two (95.8%) of the KFS patients showed non-mosaic 47,XXY karyotypes and 47,XXY,inv(9)(p11.1q13); the other KFS patients had mosaic karyotypes of 47,XXY/46,XY, 47,XXY/46,XX, and 47,XXY/48,XXXY/46,XX. Among the 556 idiopathic NOA patients with normal karyotypes, 67 (12.05%) had microdeletions in the AZF region of the Y chromosome. Microdeletions were most frequently detected in the AZFc region, followed by AZFa, AZFb, AZFbc, and partial AZFc deletions. However, Y chromosome microdeletions were not found in any of the azoospermic KFS patients. In view of the hormonal and genetic abnormalities in infertile men with idiopathic NOA and with azoospermic KFS, genetic testing for karyotype, Y chromosome microdeletions, and hormonal parameters is advocated.

scholarly journals GENETIC FACTORS OF MALE INFERTILITY, THEIR COMBINATIONS AND THE SPERMATOLOGICAL CHARACTERISTICS OF MEN WITH FERTILITY FAILURES

2018 ◽  
Vol 19 (2) ◽  
pp. 40-51
Author(s):  
N. Yu. Safina ◽  
T. A. Yamandi ◽  
V. B. Chernykh ◽  
L. V. Akulenko ◽  
S. V. Bogolyubov ◽  
...  
Keyword(s):  
Male Infertility ◽  
Genetic Factors ◽  
Sex Chromosome ◽  
Gene Mutations ◽  
Normal Karyotype ◽  
Chromosome Abnormalities ◽  
Cag Repeats ◽  
Infertile Men ◽  
Sex Chromosome Abnormalities ◽  
Male Patients

The objectiveis to study the occurrence of common genetic factors of male infertility in men with reproductive problems, their combinations and spermatological characteristics.Materials and methods. 393 men with infertility in marriage were examined. According to the results of the cytogenetic study, the sample is divided into 3 groups: 135 men with numerical sex chromosome abnormalities; 58 male patients with a balanced structural rearrangement; 200 men with normal karyotype. Y chromosome microdeletions, CFTR gene mutations and CAG-repeats polymorphism of AR gene were analyzed.Results. The Y-chromosome microdeletions partially AZFc deletions were detected in 13 % male patients with sex chromosome abnormalities. A combination of chromosomal abnormalities with AZF deletions and/or CFTR gene mutations and long CAG repeats of AR gene was found in 19 % infertile men with balanced chromosome rearrangements. Infertile men with normal male karyotype presented the frequency of common genetic factors of male infertility was almost 2 times higher than the combined frequency of these factors in groups of patients with chromosomes abnormalities. Azoospermia in men with normal karyotype and patients with chromosome abnormalities was diagnosed with the same frequency (58 %). In all men who have identified the presence of two or more genetic factors of male infertility, severe forms of pathozoospermia (azoospermia and severe oligozoospermia) were found.Conclusion. The combination of genetic factors of male infertility is accompanied by severe forms of pathozoospermia that indicates a possible additive effect of negative effect on spermatogenesis and male fertility. 

P–020 AZFc partial microdeletions of the Y chromosome is associated with severe oligozoospermia among Iranian men

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Z AzarAfshar ◽  
M A Sadigh. Gilani ◽  
A Ghaheri ◽  
M R Zamanian
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Sperm Count ◽  
Control Group ◽  
Severe Oligozoospermia ◽  
Factors Affecting ◽  
Sequence Tagged Sites ◽  
Infertile Men ◽  
Registration Number ◽  
History Of

Abstract Study question Are AZFc partial deletions correlated with severe oligozoospermia in Iranian men? Can we consider them as risk factors for infertility? Summary answer The frequency of total partial AZFc microdeletions was significantly higher in the oligozoospermia group compared to control group (8% vs. 3%, P = 0.028). What is known already Among many factors affecting male infertility, the second most common genetic factor is Y chromosome microdeletion. Some studies on partial AZFc microdeletions (especially on three major types; gr/gr, b1/b3 and b2/b3) have associated them with impaired spermatogenesis (azoospermia and oligozoospermia) in infertile men from different ethnicities. This finding is attributed to differences in alterations in pattern of DAZ/CDY1 copy numbers as spermatogenesis related genes. Study design, size, duration 200 oligozoospermic (sperm count <5 mil./mL) and 200 fertile men were included as case and control groups, respectively. Individuals with karyotype abnormalities, complete microdeletions in AZF regions, infections, hypogonadism, history of chemotherapy and radiation, cryptorchidism or history of orchiopexy were not included. The study was approved by the Royan Institute Ethics Committee. Written informed consents were obtained from each participant. Participants/materials, setting, methods Total DNA from peripheral blood was used to amplify six sequence-tagged sites (STS) markers through multiplex PCR to detect AZFc partial deletions according to previous studies. Patterns of deletion in DAZ and CDY1 copies were determined through PCR- RFLP. Main results and the role of chance The frequency of AZFc partial microdeletions was 8% in oligozoospermic men (16/200) which was significantly higher compared to 3% in control group (6/200) (P = 0.028). Hence, partial deletions may be considered as a risk factor for the male infertility in Iranian population. Also, gr/gr showed a higher frequency in oligozoospermic group (4%) compared to controls (1.5%) (P = 0.126). The combination of DAZ1/2+CDY1b was the most observed deletion pattern in 8 oligozoospermic men with gr/gr deletion (75%), while among 3 controls with gr/gr, DAZ3/4+CDY1a (2 out of 3) and DAZ3/4+CDY1b (1 out of 3) were detected. Therefore, DAZ1/2+CDY1b can be correlated to oligozoospermia. Limitations, reasons for caution In order to achieve stronger statistical results, a larger sample size is of more help. Wider implications of the findings: Risk of vertical transmission to male offspring and expansion in the size of deletions should be considered when providing ART services to infertile men. Genetic counseling is suggested in oligozoospermic men. Trial registration number -

scholarly journals Analysis of Y Chromosome Microdeletion and Karyotype in 516 Patients With Azoospermia

2020 ◽  
Author(s):  
Lihua Wu ◽  
Jingjing Hu ◽  
Yiqun He ◽  
Yicong Zhang ◽  
Kailing Liang ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Chromosome Abnormality ◽  
Karyotype Analysis ◽  
Detection Methods ◽  
Azoospermia Factor ◽  
Y Chromosome Microdeletion ◽  
Abnormal Rate ◽  
Polymerase Chain ◽  
Conventional Cytogenetics ◽  
Fluorescent Polymerase Chain Reaction

Abstract Background: To investigate the correlation between Y chromosome microdeletion and cytogenetic analysis in patients with azoospermia.Methods: A total of 516 patients with azoospermia were enrolled from March 2015 to December 2019. Karyotype analysis(G-banding) was performed with peripheral blood.Y-chromosome azoospermia factor (AZF) were detected by quantitative fluorescent polymerase chain reaction (QF-PCR).Results: Chromosome abnormality was detected in 66 of the 516 azoospermia patients, with an abnormal rate of 12.8% In addition, 7.8% cases(40/516) presented with Y-chromosome AZF microdeletions, in which 27 cases patients with karyotype of 46,XY(67.5%,27/40) and 13 cases of chromosome abnormalities (32.5%,13/40).Conclusion: The incidence of Y chromosome microdeletion was higher in the patients with karyotype of 46,XY. Conventional cytogenetics cannot directly reflect the microdeletions of Y chromosome. Therefore, the combination of this two detection methods can help to clarify the genetic causes of patients with azoospermia and provide a theoretical basis for clinical assisted reproductive technology.

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