MicroRNAs (miRNAs), present abundantly in human body fluids, may serve as biomarkers for the diagnosis of a variety of diseases. Recent studies show that they are also abundantly and stably expressed in the seminal plasma of men. Some seminal plasma-specific miRNAs can be used as potential markers for forensic body fluid identification. Furthermore, the expression profile of seminal plasma miRNAs in normal fertile men is quite different from that in idiopathic infertile patients. The specifically altered profile of seminal plasma miRNA is closely related with male infertility and spermatogenic dysfunction and therefore can be used as a novel biomarker for the diagnosis of male infertility. A deeper insight into the specific changes of seminal miRNA may point a new direction in the studies of the molecular mechanisms of male infertility.
Biomarkers ; chemistry ; Humans ; Infertility, Male ; diagnosis ; genetics ; Male ; MicroRNAs ; genetics ; Semen ; chemistry

Cell-free RNAs (cfRNAs), including mRNA and microRNA, are transcripts existing outside cells. These extracellular RNAs have been detected in many kinds of human body fluids and reported as promising noninvasive biomarkers for disease diagnosis and research. Recent studies discovered the presence of cfRNAs in human seminal plasma and revealed its general characteristics. Cell-free seminal RNA has been proposed as a novel noninvasive biomarker for male infertility and forensic identification. This review focuses on the general characteristics, current application, and perspective of cfRNAs.
Humans ; Infertility, Male ; diagnosis ; genetics ; Male ; MicroRNAs ; genetics ; RNA ; analysis ; Semen ; chemistry

Cell-free DNA, also referred to as extracellular DNA, has been detected in many kinds of human body fluids, including blood plasma, urine, cerebrospinal fluid, bronchoalveolar lavage fluid, amniotic fluid, and seminal plasma. At present, cell-free DNA has been reported widely as promising noninvasive biomarkers for disease diagnosis and research. Recent years have witnessed some progress in the studies of the general characteristics of cell-free DNA, such as its concentration, extent of molecular weight, origin and existing forms, as well as in its clinical application. Cell-free seminal DNA has been proposed as promising noninvasive biomarkers for the studies and diagnosis of male idiopathic infertility, and the early diagnosis, treatment evaluation and outcome prediction of testicular germ cell tumors and prostatic cancer. This review summarizes the general characteristics and biological functions of cell-free DNA, and outlines the research status and application perspective of cell-free seminal DNA.
Biomarkers ; analysis ; DNA ; Humans ; Infertility, Male ; diagnosis ; genetics ; Male ; Semen ; chemistry

Genome sequencing data have been accumulating exponentially. The detection and analysis of a tremendous amount of genetic information require new rapid, highly-efficient techniques of hybridization and sequencing. The development of high-through genechip technology has dramatically enhanced our ability in male infertility research. Current applications of genechip technology in male infertility include the study of testis genes, the analysis of spermatozoon mRNA, the study on cell genital toxicity, the diagnosis and treatment of male infertility. This review summarizes the present situation in male infertility research and the potential clinical application.
Animals ; Homeodomain Proteins ; genetics ; Humans ; Infertility, Male ; diagnosis ; genetics ; therapy ; Male ; Oligonucleotide Array Sequence Analysis ; RNA, Messenger ; analysis

OBJECTIVETo develop a multiplex PCR protocol, which could be suitable for routine screening of microdeletions on the Y chromosome in azoospermic and oligozoospermic male infertility patients.

METHODSFive multiplex sets were established. Eighty-seven azoospermic and oligozoospermic patients undergoing intracytoplasmic sperm injection (ICSI) in the in vitro fertilization (IVF) center and 30 azoospermic men undergoing testicular biopsy in the clinic of Urology Surgery were screened for microdeletions of Y chromosome.

RESULTSA total of 19 (16.2%) cases of microdeletions were found in 117 azoospermic and oligozoospermic patients by screening of Y chromosome microdeletions. Of these, 11 cases (18.0%) were found in 61 oligozoospermic patients, and 8 cases (14.3%) were found in 56 azoospermic patients.

CONCLUSIONThe multiplex PCR protocol presented in this study is an easy-to-do and reliable method for detecting microdeletions on the Y chromosome. Routine screening of microdeletions on the Y chromosome for azoospermic and oligozoospermic patients is essential.

Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Female ; Genetic Testing ; methods ; Humans ; Infertility, Male ; diagnosis ; genetics ; Male ; Polymerase Chain Reaction

Background: The 47,XYY syndrome could result in fertility problems. However, seldom studies reported comprehensive researches on the embryonic development and pregnancy outcomes of these patients. This study aimed to evaluate the clinical outcomes of nonmosaic 47,XYY patients performed with fluorescent in situ hybridization (FISH) and preimplantation genetic diagnosis (PGD) treatment. Methods: This was a retrospective study. Between January 2012 and May 2017, 51 infertile males with nonmosaic 47,XYY syndrome underwent FISH-PGD were included in the study. According to sex chromosomal FISH results, embryos were classified as normal signal, no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups, respectively. The incidence of each group, the fixation rate, and hybridization rate were calculated. Embryonic development and pregnancy outcomes were also analyzed. The measurement data were analyzed with Student's t-test. The comparison of categorical data was analyzed with the Chi-square test and Fisher's exact test when expected cell count was <5. Results: The 53 PGD cycles with 433 embryos were analyzed. The fixation rate was 89.6%, while the hybridization rate was 96.4%. There were 283 embryos with two sex chromosomal signals with clear diagnosis (65.4%). The numbers of no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups were 45 (10.4%), 14 (3.2%), 24 (5.5%), and 67 (15.5%), respectively. Embryos with abnormal signals were abandoned. The number of good-quality embryos was 210 (57.4%), including implanted embryos on day 4/day 5 and cryopreserved. The rates of good-quality embryos in the no nuclei fixed (22.2%), no signal in fixed nuclei (28.6%), and suspensive signal groups (33.3%) were comparable (P > 0.05), and were significantly lower than the normal signal group (66.4%, P < 0.001). The clinical pregnancy rates of fresh and frozen embryos transferred cycles were 70.6% and 85.7%, respectively. Conclusions Among embryos with a clear diagnosis of sex chromosome, about one-fifth showed abnormal signals. Embryos with two sex chromosomal signals are more likely to develop into good-quality ones. The application of the PGD by FISH may help to improve the clinical outcome s.
Female ; Humans ; In Situ Hybridization, Fluorescence ; Infertility, Male ; genetics ; Male ; Pregnancy ; Preimplantation Diagnosis ; Retrospective Studies ; Sex Chromosome Disorders ; diagnosis ; genetics ; XYY Karyotype ; diagnosis ; genetics

Microdeletions of the Y chromosome are a most common known genetic cause of spermatogenetic failure in infertile men. Recent studies have revealed the existence of genetic factors in the long arm of the Y chromosome Yq11.23, known as azoospermia factors (AZF), which are further divided into three separate regions including AZFa, AZFb and AZFc. The AZF deletions are due to different recombination between large palindromic sequences during mesophase. Microdeletions of different AZF regions cause different degrees of spermatogenic impairment. The present paper reviews the clinical significance and relevant laboratory techniques of detecting AZF of the Y chromosome.
Azoospermia ; diagnosis ; genetics ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Genetic Loci ; Humans ; Infertility, Male ; diagnosis ; genetics ; Male ; Seminal Plasma Proteins ; genetics ; Sex Chromosome Aberrations

OBJECTIVE: To investigate the correlation between male infertility and Y chromosome microdeletions of azoospermia factor (AZF) regions, and to establish a reliable genetic diagnosis in idiopathic infertile male patients with azoospermia or severe oligozoospermia. METHODS: Multiplex PCR amplification of 6 sequence-tagged sites in AZF regions of the Y chromosome was examined among 100 normal karyotype male patients with azoospermia or oligozoospermia. RESULTS: Four patients (4%) had Y chromosome microdeletions, the microdeletions of 3 patients were idiopathic azoospermic and those of the other 1 patient were secretory azoospermia. CONCLUSION The PCR-based Y chromosome microdeletion screening is simple and effective in the diagnosis of patients with severe male infertility. Microdeletion of Y chromosome is one of the major causes of severe dyszooospermia.
Adult ; Azoospermia ; genetics ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Genetic Loci ; Humans ; Infertility, Male ; diagnosis ; genetics ; Karyotyping ; Male ; Oligospermia ; genetics ; Seminal Plasma Proteins ; genetics

A chromosomal abnormality was found in about 3.6-7.6% of males presenting with azoospermia or oligospermia. Translocations between X chromosome and autosomes are rarely seen genetic disorders that cause male infertility. We described here a 26-year-old infertile male with t(X;14)(p11.4; p12). He showed a normal phenotype without any familial history of congenital abnormalities. The cytogenetic analysis of the proband revealed an X-autosomal translocation, 46,Y,t(X;14)(p11.4;p12), which was inherited from his mother. The testis biopsies indicated the arrest of spermatogenesis. There were no microdeletions of the azoospermia factor a (AZFa), AZFb and AZFc regions in the Y chromosome shown by PCR with 11 sequence-tagged site (STS) markers. According to the literature, male carriers of an X-autosome translocation are invariably sterile, regardless of the position of the break-point in the X chromosome. To our knowledge, this is the first case report of azoospermia with t(X;14)(p11.4;p12) in Korea.
Adult ; *Chromosomes, Human, Pair 14 ; *Chromosomes, Human, X ; Humans ; Infertility, Male/diagnosis/*genetics ; Karyotyping ; Male ; Spermatogenesis ; *Translocation, Genetic

OBJECTIVETo assess the diagnostic value of sperm DNA fragmentation (SDF) for male infertility.

METHODSTwo hundred and ninety-nine males attending infertility clinic were classified into 157 primary infertile cases and 142 fertile controls. Semen analysis was performed as recommended by the World Health Organization (WHO). SDF was assessed by sperm chromatin dispersion (SCD) assay, and the results were expressed as DNA fragmentation index (DFI).

RESULTSThe DFI was significantly higher in infertile males than that in fertile controls [(17.1± 9.3)% vs. (14.2± 9.0)%](P< 0.01). No significant difference was detected in the age of male and female partners, seminal volume, sperm count, motility and morphology between infertile males and fertile controls (P> 0.05). The area under the receiver operating characteristic curve (AUC) was 0.861 [95% confidence interval (CI)= 0.814-0.907] for 15.1% of SDF. The threshold level of 15.1% was derived as cut-off value to discriminate infertile men from fertile controls. By this threshold, specificity was 88.2% and sensitivity was 81.8%. The 299 men were divided into group A (n= 120) with DFI≥ 15.1% and group B (n= 179) with DFI< 15.1% based on the cut-off value. The percentage of infertile men in group A was significantly higher than that in group B (79.2% vs. 34.6%) (P< 0.01). The odds ratio (OR) for infertility in the two groups was 7.2 (95%CI= 4.2-12.3).

CONCLUSIONSperms with high-level of DNA fragmentation can impair male fertility. DFI can be used as a good diagnostic marker for male infertility.

Adolescent ; Adult ; DNA ; metabolism ; DNA Fragmentation ; Female ; Humans ; Infertility, Male ; diagnosis ; genetics ; Male ; Spermatozoa ; metabolism ; Young Adult