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Fertility and Sterility Mar 2020The complexity of male reproductive impairment has hampered characterization of the underlying genetic causes of male infertility. However, in the last 20 years, more... (Review)
Review
The complexity of male reproductive impairment has hampered characterization of the underlying genetic causes of male infertility. However, in the last 20 years, more powerful and affordable tools to interrogate the genetic and epigenetic determinants of male infertility have accelerated the number of new discoveries in the characterization of male infertility. With this explosion of new data, integration in a systems-based approach-including complete phenotypic information-to male infertility is imperative. We briefly review the current understanding of genetic and epigenetic causes of male infertility and how findings may be translated into a practical component for the diagnosis and treatment of male infertility.
Topics: Big Data; DNA Mutational Analysis; Epigenesis, Genetic; Epigenomics; High-Throughput Nucleotide Sequencing; Humans; Infertility, Male; Male; Polymorphism, Genetic; Reproductive Techniques, Assisted; Sequence Analysis, DNA
PubMed: 32089255
DOI: 10.1016/j.fertnstert.2020.01.001 -
Fertility and Sterility Jun 2020
Topics: Female; Humans; Infertility, Female; Infertility, Male; Life Style; Male
PubMed: 32386870
DOI: 10.1016/j.fertnstert.2020.04.014 -
Fertility and Sterility Aug 2020Male factor infertility is a significant problem present in up to 50% of infertile couples. The relationship between male infertility and systemic disease is of... (Review)
Review
Male factor infertility is a significant problem present in up to 50% of infertile couples. The relationship between male infertility and systemic disease is of significant interest, and emerging evidence suggests a relationship between male infertility and male genitourinary (GU) birth defects (cryptorchidism, hypospadias, ambiguous genitalia, and congenital anomalies of the kidney and urinary tract). Many of these birth defects are treated in isolation by busy urologists without acknowledgment that these may be related to more global syndromic conditions. Conversely, geneticists and nonurologists who treat variable systemic phenotypes may overlook GU defects, which are indeed related conditions. Many of these defects are attributed to copy number variants dosage-sensitive genes due to chromosome microdeletions or microduplications. These variants are responsible for disease phenotypes seen in the general population. The copy number variants described in this review are syndromic in some cases and responsible for both GU birth defects as well as other systemic phenotypes. This review highlights the emerging evidence between these birth defects, male infertility, and other systemic conditions.
Topics: Chromosome Deletion; Chromosome Duplication; DNA Copy Number Variations; Fertility; Gene Dosage; Genetic Predisposition to Disease; Humans; Infertility, Male; Male; Mutation; Phenotype; Risk Assessment; Risk Factors; Urogenital Abnormalities
PubMed: 32741459
DOI: 10.1016/j.fertnstert.2020.06.042 -
Fertility and Sterility Jan 2018Although direct correlates between cancer and infertile epigenetic profiles are rare, the general similarities between the two disease processes offer insights into the... (Review)
Review
Although direct correlates between cancer and infertile epigenetic profiles are rare, the general similarities between the two disease processes offer insights into the study of both abnormalities. Foremost among them is the nature of these pathologies, where one disease (cancer) is categorized by an inability to control or inhibit cellular proliferation, and the other (male infertility) is caused by an inability to maintain the normally efficient extreme proliferation of the male germ cell. Based on this similarity alone, the study of epigenetics in both male fertility and cancer has the potential to offer intriguing insights in both fields. The creative application of harmonious studies of both infertility and cancer is likely to yield useful and informative data that may aid in both the understanding and treatment of both pathologies.
Topics: Animals; Cell Proliferation; Epigenesis, Genetic; Fertility; Gene Expression Regulation, Developmental; Gene Expression Regulation, Neoplastic; Genetic Predisposition to Disease; Heredity; Humans; Infertility, Male; Male; Neoplasms; Neoplastic Stem Cells; Pedigree; Phenotype; Spermatozoa
PubMed: 29307396
DOI: 10.1016/j.fertnstert.2017.11.006 -
Fertility and Sterility Feb 2012To provide a focused review of the scientific literature pertaining to spermatozoal RNA. (Review)
Review
OBJECTIVE
To provide a focused review of the scientific literature pertaining to spermatozoal RNA.
DESIGN
Review of the literature and appraisal of relevant articles.
SETTING
Not applicable.
PATIENT(S)
Infertile male.
INTERVENTION(S)
None.
MAIN OUTCOME MEASURE(S)
Spermatozoal RNAs as potential epigenetic modifiers in early embryo development and as clinical markers of male infertility.
RESULT(S)
The nucleus of mature spermatozoa contains a complex population of mRNAs and miRNAs despite its transcriptionally inert state.
CONCLUSION(S)
A specific set of functional RNAs are delivered into oocytes during fertilization and are thought to contribute extragenomically to early embryonic development. Even if spermatozoal RNAs is merely residual, it still has the potential to greatly improve the investigative and diagnostic potential of male infertility.
Topics: Animals; Fertility; Gene Expression Regulation, Developmental; Genetic Markers; Genetic Testing; Humans; Infertility, Male; Male; MicroRNAs; Predictive Value of Tests; RNA, Messenger; Spermatogenesis; Spermatozoa; Transcription, Genetic
PubMed: 22289287
DOI: 10.1016/j.fertnstert.2011.12.035 -
Ugeskrift For Laeger Jan 2021A male factor plays a role in half of infertility cases. The causes are summarised in this review, and they include hormonal disturbances, genetic alterations,... (Review)
Review
A male factor plays a role in half of infertility cases. The causes are summarised in this review, and they include hormonal disturbances, genetic alterations, testicular disease, obstruction, and ejaculatory dysfunction. Evaluation may reveal a correctable cause or uncover underlying disease. In a few cases of pretesticular infertility, medical treatment may have effect, and in cases of obstruction or varicoceles, surgical treatment may correct the problem. In cases with ejaculatory dysfunction, assisted ejaculation often produce viable sperm. Sperm for assisted reproduction may also be obtained by aspiration or surgery.
Topics: Humans; Infertility, Male; Male; Spermatozoa; Urologic Diseases; Varicocele
PubMed: 33491636
DOI: No ID Found -
Frontiers in Bioscience (Scholar... Jun 2017A large number of human diseases arise as a result of genetic abnormalities. With the advent of improved molecular biology techniques, the genetic etiology of male... (Review)
Review
A large number of human diseases arise as a result of genetic abnormalities. With the advent of improved molecular biology techniques, the genetic etiology of male infertility is increasing. The common genetic factors responsible for male infertility are chromosomal abnormalities, Yq microdeletion and cystic fibrosis. These are responsible for approximately 30 percent cases of male infertility. About 40 percent cases of male infertility are categorized as idiopathic. These cases may be associated with genetic and genomic abnormalities. During last few years more and more genes are implicated in male infertility leading to decline in prevalence of idiopathic etiology. In this review we will summarize up to date published works on genetic etiologies of male infertility including our own works. We also briefly describe reproductive technologies used to overcome male infertility, dangers of transmitting genetic disorders to offspring and ways to prevent transmission of genetic disorders during assisted reproduction. At the end we will provide our points on how genomic information can be utilized for prediction and prevention of male infertility in coming years.
Topics: Animals; Chromosome Aberrations; Genetic Predisposition to Disease; Genetic Testing; Genomics; Humans; Infertility, Male; Male
PubMed: 28410128
DOI: 10.2741/s496 -
Fertility and Sterility Nov 2015There are a variety of dysfunctions of the ejaculatory process which may negatively impact male fertility but are not commonly discussed. The meanings of the terms used...
There are a variety of dysfunctions of the ejaculatory process which may negatively impact male fertility but are not commonly discussed. The meanings of the terms used to describe these conditions are often unclear. This month's Views and Reviews define the commonly used and confused terms. The initial article explains normal male function with an emphasis on the ejaculatory process. Following articles discuss the causes, evaluation and management of the male with ejaculatory dysfunction.
Topics: Animals; Ejaculation; Fertility; Humans; Infertility, Male; Male; Penis; Risk Factors; Sexual Behavior; Sexual Dysfunction, Physiological; Sexual Dysfunctions, Psychological
PubMed: 26432529
DOI: 10.1016/j.fertnstert.2015.09.026 -
International Braz J Urol : Official... 2012Unexplained male infertility is a diagnosis reserved for men in whom routine semen analyses results are within normal values and physical as well as endocrine... (Review)
Review
Unexplained male infertility is a diagnosis reserved for men in whom routine semen analyses results are within normal values and physical as well as endocrine abnormalities were ruled out. In addition to erectile problems and coital factors, immunologic causes and sperm dysfunction may contribute to such condition. New etiologies of unexplained male infertility include low level leukocytospermia and mitochondrial DNA polymerase gene polymorphism. Contemporary andrology may reveal cellular and sub-cellular sperm dysfunctions which may explain subfertility in such cases, thus aiding the clinician to direct the further work-up, diagnosis and counseling of the infertile male. The objective of this article is to highlight the concept of unexplained male infertility and focuses on the diagnosis and treatment of this condition in the era of modern andrology and assisted reproductive techniques. Extensive literature review was performed using the search engines: Pubmed, Science-direct, Ovid and Scopus.
Topics: Fertilization; Humans; Infertility, Male; Male; Oxidative Stress; Reproductive Techniques, Assisted; Semen Analysis
PubMed: 23131516
DOI: 10.1590/s1677-55382012000500002 -
Fertility and Sterility Nov 2020
Topics: Cohort Studies; Humans; Infertility, Male; Male; Neoplasms; Retrospective Studies; Urogenital Neoplasms
PubMed: 32988615
DOI: 10.1016/j.fertnstert.2020.08.1411