AZF Microdeletion Analysis of Test Results in 215 Male Patients with Infertility
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Abstract:
Objective:To study the significance of the Y chromosome azoospermia factor AZF(azoospermia factor)for the detection of gene diagnosis of male infertility causes of importent.Methods:268 patients were tested for the six reproductive hormone testing,semen detection and conventional karyotype analysis.215 normal karyotypes were selected according to the results of the analysis and were divided into four groups:azoospermia group,serious oligospermatism group,oligospermia group and other groups(including recurrent spontaneous abortion and cryptorchidism or severe varicocele patients).Multi-PCR technology was used in testing AZFgenes.Results:In 215 patients,15 cases showed different sites of AZF gene deletion;6 depetion in azoospermia group(14.6%),9 in serious oligospermia(13.8%)and no depletion was found in the other groups.The depletion rates of azoospermia and severe oligospermia groups had significant difference when compared with that of the other groups(P0.05).Conclusion:Y chromosome microdeletions germ is one of the important reasons of serious importence.AZF gene screening is a simple and effective primary diagnosis of azoospermia and severe oligospermia.Keywords:
Azoospermia factor
Oligospermia
Y chromosome microdeletion
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Azoospermia factor
Y chromosome microdeletion
Abnormality
Chromosome abnormality
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Y chromosome microdeletion
Azoospermia factor
Semen Analysis
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Citations (67)
Objective
To explore the genetic causeof non-obstructive azoospermia or severe oligozoospermia in Jiaozuo area of Henan Province, and provide basisof clinical diagnosis and treatment.
Methods
Routine karyotype analysisand the screening for Y chromosomal microdeletions in azoospermia factor (AZF) region were performed for 343 cases with azoospermia or severe oligozoospermia who were admitted to our hospital from January 2017 to December 2018.
Results
A total of 39 chromosomal abnormalities (11.37%) were detected in 343 patients, which including 27 cases (7.87%) of Klinefelter syndrome. A total of 44 cases (12.83%) of Y chromosome microdeletions were detected, which included 30 casesof AZFc deletion. Chromosome karyotype abnormalities and Y chromosome microdeletions were detected at the same timein 5 patients.
Conclusion
The incidence of chromosomal abnormalities and Y chromosome microdeletion was higher in patients with non-obstructive azoospermia or severe oligozoospermia. It was recommended to simultaneouslyperform karyotype analysis and screening for Y chromosomal microdeletions in azoospermia factor (AZF) region for them to provide high quality diagnosis and treatment.
Key words:
Azoospermia; Severe oligospermia; Karyotype analysis; Y chromosome microdeletions
Azoospermia factor
Oligospermia
Klinefelter syndrome
Y chromosome microdeletion
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To evaluate the frequency of microdeletions in the long arm of Y chromosome of idiopathic infertile males with azoospermia and oligospermia in Shaanxi province in China and to investigate the relevance of sperm count to Y microdeletion frequencies.According to the sequence of sequence-tagged sits (STS) AZFa, AZFb, AZFc and SRY, 4 of the azoospermic factor regions on Y chromosome long-term supplied by GenBank, 5 sets of primers were synthesized. The Y microdeletions in AZF regions were screened by polymerase chain reaction (PCR) in 64 idiopathic cases of azoospermia and oligospermia and 20 men of known fertility.No microdeletion was detected in the 20 normospermic subjects. Deletion of the AZFc/DAZ was detected in 11 individuals and one patient had both AZFb and AZFc deletion; no deletion of AZFa and SRY region was found. The frequency of Y microdeletions in the subgroups with different sperm count showed the highest value among azoospermic men (3 cases, 21.4%). The percentage progressively decreased with the deletion frequency (20.0%, 17.9% and 8.3%) in the subgroups with sperm counts of < 1 x 10(6)/ml, < (1-5) x 10(6)/ml and < (1 to approximately 10) x 10(6)/ml, respectively.Y chromosome microdeletions are specifically associated with severe spermatogenic failure. The rate of deletion involving AZF region of the Y-chromosome is higher in infertile men with azoospermia and oligospermia. PCR amplification of AZF locus is useful for the diagnosis of microdeletions in the Y-chromosome.
Oligospermia
Testis determining factor
Azoospermia factor
Y chromosome microdeletion
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The aim of the study was to estimate the type and the prevalence of chromosomal abnormalities and Y-chromosome microdeletions, analysed together for the first time in idiopathic infertile men in Serbia. During 10 years period among 823 couples with infertility problems, in 110 cases the cause of infertility was severe oligospermia or azoospermia in male partners. All of them underwent cytogenetic analysis, performed according to standard techniques. Testing for the presence of Y-chromosome microdeletions in AZF regions using multiplex PCR was done in all patients with normal karyotype (97) and in three cases with cytogenetically visible aberrations of Y chromosome, in order to specify the breakpoints. The overall prevalence of chromosomal abnormalities in the group of 110 infertile men was 11.82%. The most frequent aberration was Klinefelter syndrome (47, XXY), being found in 5.45%. Chromosomal aberrations were found in 13.89% in group of men with azoospermia, and in 7.89% in group of men with severe oligospermia. Among the infertile men with normal karyotype, the incidence of microdeletions of AZF regions was 7.22%. Two types of deletions were identified: AZFc and AZFbc, with frequencies of 6.19% and 1.03%, respectively. Y-chromosome microdeletions were found in 6.45% of azoospermic patients, and in 8.57% of severe oligospermia group of patients. Our findings demonstrate the presence of higher frequency of chromosome aberrations and Y-microdeletions in a group of infertile men with azoospermia/oligospermia in Serbia. Results confirmed importance of offering these tests as part of genetic counselling of infertile couples in our country.
Oligospermia
Azoospermia factor
Y chromosome microdeletion
Klinefelter syndrome
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Y chromosome microdeletion
Klinefelter syndrome
Oligospermia
Semen Analysis
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Citations (0)
To evaluate the correlation between chromosomal polymorphisms and male sperm quality in Jilin Province.A total of 2 584 male patients with infertility in Center for Reproductive Medicine, First Bethune Hospital of Jilin University from 2008 to 2013 were enrolled, which semen analysis, chromosomal analysis, Y chromosome microdeletion analysis and serum hormone levels analysis were performed. A total of 602 healthy individuals, 50 fertile individuals with normal kayrotypes, 50 azoospermia patients with normal kayrotypes and 50 oligospermia patients with normal kayrotypes were selected as control groups.There was no significant difference in the frequency of chromosome polymorphisms between infertile patients and normal control individuals (3.91% (101/2 584) vs 3.16% (19/602), P > 0.05). And there was no significant difference in the frequency of autosomal polymorphisms between infertile patients and normal control individuals (all P > 0.05). The frequency of Yqh-variant was increased by the decrease of sperm count and it appeared a significantly high frequency in azoospermia patients compared with oligospermia patients and sperm count normal patients in the infertile group (57.14% (21/42) vs 24.32% (9/37), 0 (0/13), both P < 0.05). There was no significant difference in the testis volume and serum hormone levels between the infertile patients with chromosomal polymorphisms and patients in control groups with normal kayrotypes (all P > 0.05). The results of PCR amplication indicated that 32.14% (9/28) patients with Yqh ± had Y chromosome microdeletion.There is no significant correlation between autosomal polymorphisms and male infertility. But Yqh ± may be responsible for Y chromosome microdeletion and male infertility.
Oligospermia
Y chromosome microdeletion
Semen quality
Semen Analysis
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Oligospermia
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To investigate the relationship between microdeletion of azoospermia factor (AZF) and male infertility.Multiplex PCR was used to detect Y chromosome microdeletion in AZFa, AZFb and AZFc in 103 cases of idiopathic azoospermia, 72 cases of severe idiopathic oligozoospermia, and 60 healthy male controls.No microdeletion was found in 60 controls. Y chromosome microdeletion was found in 19 of 175 azoospermia patients, the total prevalence rate of microdeletion was 10.9%. There were 15 cases (11 for azoospermia, 4 for severe oligozoospermia) in AZFc (8.6%), 3 cases (1 for azoospermia, 2 for severe oligozoospermia) in AZFb+c (1.7%), 1 case (azoospermia) in AZFa+b+c (0.6%). According to statistics, the difference of microdeletion rate between two groups was significant(P < 0.01).Y chromosome microdeletions is an important reason of azoospermia. Screening of Y chromosome microdeletions for azoospermia patients before intracytoplasmic sperm injection treatment is essential.
Azoospermia factor
Y chromosome microdeletion
Obstructive azoospermia
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Y chromosome abnormalities are the leading cause of male infertility. The clinical detection of abnormalities is necessary for appropriate genetic counselling. This study describes the prevalence, distribution and characteristics of Y chromosome abnormalities, which should be considered in the clinical management of infertile males. A total of 121 patients with oligozoospermia, 120 with azoospermia and 88 normal individuals were recruited between June 2019 and July 2021. Y chromosome microdeletions were assessed using multiplex ligation-dependent probe amplification (MLPA). The abnormal Y chromosome prevalence was 30.70%, and it was most common in patients aged 26-40 years. The frequencies of azoospermia factor (AZF) deletion, duplication and deletions/duplications were 19.76%, 9.42% and 1.52% respectively. The most common abnormalities were AZFc deletion (19.80%), AZFc partial deletion (40.59%) and AZFc partial duplication (17.82%). Oligozoospermia was associated with an increased incidence of AZF deletion. In the subgroup analysis, patients <30 years old with azoospermia exhibited elevated follicle-stimulating hormone levels and oestradiol. Moreover, the incidence of AZF deletion was higher in those with azoospermia (OR: 2.12; 95% CI: 1.05-5.28; p = 0.023) or oligozoospermia (OR: 2.54; 95% CI: 1.13-5.79; p = 0.008) than in normal individuals for ages ≥30 years.
Azoospermia factor
Y chromosome microdeletion
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