OBJECTIVETo investigate Y chromosome microdeletions in severe oligospermia men with varicocele.

METHODSWe randomly selected 100 cases of severe oligospermia with left varicocele (sperm concentration <5 x 10(6)/ml, group 1), 100 cases of mild oligospermia with left varicocele (sperm concentration 10 -20 x 10(6)/ml, group 2), 100 cases of idiopathic infertility with severe oligospermia (group 3), 100 cases of idiopathic infertility with moderate oligospermia (group 4) and 30 normal fertile men as controls (group 5). We used polymerase chain reaction (PCR) technology to screen 9 sequence tagged sites (STS) of the AZF a, b and c regions and detect Y chromosome microdeletions.

RESULTSAZF microdeletions were found in 19 patients in group 1 (19%) and 11 in group 3 (11%), with a higher rate in the former than in the latter, but not in the other three groups.

CONCLUSIONScreening of Y chromosome microdeletions should be performed before the treatment of severe spermatogenesis with varicocele.

Adult ; Chromosome Deletion ; Chromosomes, Human, Y ; Humans ; Infertility, Male ; genetics ; Male ; Oligospermia ; genetics ; Polymerase Chain Reaction ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; Varicocele ; genetics

OBJECTIVETo explore the relationship between chromosomal abnormalities and Y chromosome microdeletions in idiopathic male infertile patients.

METHODSKaryotypic analysis and PCR were carried out in 133 male idiopathic infertile patients for chromosome karyotype and Y chromosome microdeletion analysis.

RESULTSOf the 133 patients, 25 (18.80%) were found to have chromosome abnormalities, and 12 (9.02%) were found to have Y chromosome microdeletions including 2 with varicocele and 2 with cryptorchism. Four patients had both chromosomal abnormalities and Y chromosome microdeletions.

CONCLUSIONThe chromosomal abnormalities and Y chromosome microdeletions may play an important role in idiopathic male infertility, suggesting the importance of examinations of chromosomal abnormalities and Y chromosome microdeletions in such patients.

Adult ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Humans ; Infertility, Male ; genetics ; Karyotyping ; Male ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; genetics ; Young Adult

OBJECTIVETo investigate the relationship between Y chromosome microdeletions and human spermatogenesis in infertile men with varicocele (VC).

METHODSWe divided 174 infertile VC patients into groups A (with azoospermia, n = 47) , B (with severe oligozoospermia, n=57) and C (with mild oligozoospermia, n=70), and enlisted 28 fertile males and 26 fertile females as normal controls. We collected DNA from the peripheral blood, amplified 6 sequence tagged sites in AZFa, AZFb and AZFc using multiplex PCR technique. Then we separated and scanned the amplified products by agarose gel electrophoresis to identify microdeletions and their types in comparison with the controls.

RESULTSY chromosome microdeletions were observed in 12.64% of the patients (22/174), 11 cases in group A and the other 11 in group B, but none in group C and the normal controls. The differences were statistically significant (P<0.05). In group A, 6 of the microdeletion cases were in the AZFc region, 1 in the AZFa region, 2 in the AZFb region and 2 in both AZFb and AZFc regions, while in group B, 8 cases were in the AZFc region, 2 in the AZFb region and 1 in both AZFb and AZFc regions.

CONCLUSIONInfertility is correlated to Y chromosome microdeletions in VC patients. Y chromosome microdeletion screening should be performed for infertile VC patients, especially for those with azoospermia or severe oligozoospermia.

Adult ; Case-Control Studies ; Chromosome Deletion ; Chromosomes, Human, Y ; Female ; Humans ; Infertility, Male ; genetics ; Male ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; Varicocele ; genetics

OBJECTIVETo investigate the characteristics of father-to-son vertical transmission of Y chromosome microdeletions

METHODSWe detected the Y by detection of Y chromosome microdeletions in infertile men and analysis of some of their families. chromosome azoospermia factor (AZF) microdeletions in the peripheral blood of 1 052 infertile males, investigated the paternal relatives of 12 cases of AZFc, 1 case of AZFb and 1 case of AZFb + c microdeletions, and drew the family tree diagrams of the infertile paternal relatives according to the findings.

RESULTSAmong the 1 052 infertile patients, 89 (9.73%) were found with Y chromosomal microdeletions, including 56 with AZFc, 6 with AZFa, 5 with AZFb, 14 with AZFb + c, and 8 with AZFa + b + c deletion. The investigation of the 14 patients'families revealed 1 case of AZFb and 1 case of AZFb + c deletion de novo. Among the 12 cases of AZFc deletion, vertical heredity was found in 5 patients with severe oligozoospermia, but not in the other 7 with azoospermia.

CONCLUSIONAZFe deletion may be vertically inherited from the father in severe oligozoospermia patients, and it is different from the paternal phenotype, while in azoospermia patients, AZF deletion, whatever type it may be, is less likely to be associated with vertical paternal heredity.

Adult ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Humans ; Infertility, Male ; Male ; Mass Screening ; Pedigree ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; genetics ; Young Adult

OBJECTIVE: To explore the genetic basis of three children with disorders of sex development (DSD) in association with rare Y chromosome rearrangements. METHODS: The three children, who all featured short stature and DSD, were subjected to G banding chromosomal karyotyping, multiplex PCR for Y chromosomal microdeletion, sequencing of the whole SRY gene, SNP-array analysis for genomic copy number variations, and fluorescence in situ hybridization (FISH). RESULTS: The combined analysis revealed chromosomal abnormalities in all of the three children, including 46,X,t(X;Y)(p22.3;q11.2) in case 1, mos 45,X,der(7)pus dic(Y:7)(p11.3p22)del(7)(p21.2p21.3) del(7)(p12.3p14.3) [56]/45,X [44] in case 2, and mos 45,X [50]/46,X,idic(Y)(q11.22) [42]/47,X,idem×2 [4]/47,XYY [2] in case 3. CONCLUSION Combined use of genetic techniques can delineate complex rearrangements involving Y chromosome in patients featuring short stature and DSD. Above findings have enabled molecular diagnosis and genetic counseling for the patients.
Child ; Chromosome Banding ; Chromosomes, Human, Y/genetics* ; DNA Copy Number Variations ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Polymorphism, Single Nucleotide ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development/genetics*

OBJECTIVETo establish an accurate, fast and simple screening method for AZF microdeletions using capillary technology and use it for clinical testing.

METHODSFor each pair of primers, the 5' end of either forward or reverse primer was labeled with a FAM, JOE or TAMRA fluorescence dyes to establish multiplex quantitative fluorescence PCR systems for the establishment of a screening method of Y chromosome AZF microdeletions by capillary technology. The detection of Y chromosome AZF microdeletion was carried out on 725 cases of non-obstructive azoospermia, oligospermia or asthenospermia.

RESULTSA screening method for Y chromosome AZF microdeletions using capillary technology was established. Thirty eight cases of AZF microdeletions were found among 725 cases of non-obstructive azoospermia, oligospermia or asthenospermia, which gave a deletion rate of 5.24%. Y chromosomal microdeletions were found in 8.62% of the azoospermia group, 6.75% of the oligozoospermic group, and 2.23% of the asthenospermia group.

CONCLUSIONAn accurate, fast and simple screening method of Y chromosome AZF microdeletions by capillary technology has been established, which may have an important clinical value.

Adult ; Azoospermia ; genetics ; Capillary Action ; Chromosome Deletion ; Chromosomes, Human, Y ; Humans ; Infertility, Male ; Male ; Multiplex Polymerase Chain Reaction ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; diagnosis

OBJECTIVETo explore the genetics mechanism for the phenotypic variability in a patient carrying a rare ring chromosome 9.

METHODSThe karyotype of the patient was analyzed with cytogenetics method. Presence of sex chromosome was confirmed with fluorescence in situ hybridization. The SRY gene was subjected to PCR amplification and direct sequencing. Potential deletion and duplication were detected with array-based comparative genomic hybridization (array-CGH).

RESULTSThe karyotype of the patient has comprised 6 types of cell lines containing a ring chromosome 9. The SRY gene sequence was normal. By array-CGH, the patient has carried a hemizygous deletion at 9p24.3-p23 (174 201-9 721 761) encompassing 30 genes from Online Mendelian Inheritance in Man.

CONCLUSIONThe phenotypic variability of the 9p deletion syndrome in conjunct with ring chromosome 9 may be attributable to multiple factors including loss of chromosomal material, insufficient dosage of genes, instability of ring chromosome, and pattern of inheritance.

Chromosomes, Human, Pair 9 ; genetics ; Female ; Humans ; Infant ; Karyotype ; Male ; Ring Chromosomes ; Sex Chromosome Disorders ; genetics

OBJECTIVETo study the correlation of the DNA methylation status of the imprinted gene H19 imprinting control region (ICR) with oligozoospermia and asthenozoospermia.

METHODSWe eliminated chromosomal abnormality as the cause of male infertility in the subjects by karyotype analysis and detection of Y-chromosome microdeletions, and identified 18 cases of single factor-induced oligozoospermia (sperm concentration < 15 x 10(6)/ml) and 20 cases of single factor-induced asthenozoospermia (progressively motile sperm <32%) by computer-aided sperm analysis (CASA). Then we extracted genome-wide sperm DNA, treated it with bisul- fite, subjected the target gene fragments to PCR amplification and sequencing. Lastly, we analyzed the DNA methylation status of the target genes with BIQ Analyzer and processed the data using SPSS17.0.

RESULTSThe DNA methylation level of the H19 ICR was increased significantly in the oligozoospermia patients ([9.19 +/- 2.45]%, P < 0.05), especially in the severe oligozoospermia males with sperm concentration < 3 x 10(6)/ml (P < 0.01), as compared with that of the 20 fertile control men ([0.30 +/- 0.06]%). However, no significant differences were found in the level ([0.30 +/- 0.07]%) and pattern of the DNA methylation of the H19 ICR (P = 0.62). Further analysis of the DNA methylation status of the CTCF-6 binding sites indicated that the DNA methylation degree was significant higher in the oligozoospermia men ([2.67 +/- 0.75]%) than in the fertile control ([0.05 +/- 0.03]%) or the asthenozoospermia group ([0.03 +/- 0.02]%), with no significant differences between the latter two (P = 0.35).

CONCLUSIONThe reduced DNA methylation of the H19 ICR is negatively correlated with sperm concentration but not associated with sperm motility.

Adult ; Asthenozoospermia ; genetics ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; DNA ; genetics ; DNA Methylation ; Genomic Imprinting ; Humans ; Infertility, Male ; Karyotyping ; Male ; Oligospermia ; genetics ; RNA, Long Noncoding ; genetics ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; genetics ; Sperm Count ; Sperm Motility

OBJECTIVETo compare the outcomes of intracytoplasmic sperm injection (ICSI) for infertile males with Y-chromosome microdeletions and for those with azoospermia or severe oligospermia but without Y-chromosome microdeletions.

METHODSWe retrospectively analyzed 56 cycles of ICSI for 48 infertile cases with Y microdeletions (Group A) and 94 cycles for 90 cases with azoospermia or severe oligospermia but without Y-chromosome microdeletions (Group B) during the same period. We compared the two groups in the females' age, duration of infertility, males' age, number of oocytes retrieved, number of ICSI oocytes, fertilization rate, good embryo rate, number of embryos transferred, implantation rate, clinical pregnancy rate, abortion rate, live birth rate and babies' sexes.

RESULTSThere were no significant differences between Groups A and B in the females' age, duration of infertility, males' age, number of oocytes retrieved, number of ICSI oocytes and number of embryos transferred (P > 0.05), nor in the rates of fertilization (69.0% vs 73.2%), good embryos (53.3% vs 48.7%), implantation (24.0% vs 30.3%), biochemical pregnancy (41.1% vs 44.7%), clinical pregnancy (37.5% vs 35.1%), early abortion (4.8% vs 6.1%) and live birth (35.7% vs 29.2%) (P > 0.05).

CONCLUSIONY-chromosome microdeletions do not affect the outcomes of ICSI. The affected couples should be informed of the necessity of prenatal genetic diagnosis before embryo implantation and the inevitability of vertical transmission to male offspring.

Adult ; Azoospermia ; genetics ; therapy ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Female ; Humans ; Infertility, Male ; genetics ; therapy ; Male ; Oligospermia ; genetics ; therapy ; Pregnancy ; Pregnancy Rate ; Retrospective Studies ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; genetics ; therapy ; Sperm Injections, Intracytoplasmic ; Treatment Outcome

ObjectiveTo identify the etiology of chromosome abnormality in an infertile man and analyze the correlation between the genotype and phenotype.

METHODSWe analyzed the karyotype of an infertile male using the routine G-banding technique and then the chromosome abnormality of the patient by Illumina Human CytoSNP-12 Beadchip array.

RESULTSNegative results were found in the examination of the sex-determining region Y (SRY) gene and the STR locus in the AZF zone of the patient. The karyotype of the patient was 46, XX. SNP array showed a 1.05 Mb 19p12 duplication and a 0.93 Mb Xq27.1 duplication.

CONCLUSIONSThe patient was confirmed as a case of 46,XX male syndrome. The increased copies of the FGF13 gene may be the major causes of abnormal sex determination and testis development.

46, XX Testicular Disorders of Sex Development ; diagnosis ; genetics ; Chromosome Aberrations ; Chromosome Banding ; Genetic Testing ; Humans ; Infertility, Male ; genetics ; Karyotype ; Karyotyping ; Male ; Phenotype ; Sex-Determining Region Y Protein ; genetics