-
Reproductive Medicine and Biology Apr 2021Reproductive medicine deals with fertility and is closely related to heredity. In reproductive medicine, it is necessary to provide genetic information for the patients... (Review)
Review
BACKGROUND
Reproductive medicine deals with fertility and is closely related to heredity. In reproductive medicine, it is necessary to provide genetic information for the patients prior to assisted reproductive technology (ART). Japan Society for Reproductive Medicine (JSRM) requires doctors involved in reproductive medicine to have standard knowledge of reproductive genetics and knowledge of reproductive medicine, which is covered in their publication, "required knowledge of reproductive medicine."
METHODS
With the aim of providing straightforward explanations to patients in the clinical situation at pre-ART counseling, we provide the following five topics, such as (a) risk of birth defects in children born with ART, (b) chromosomal abnormalities, (c) Y chromosome microdeletions (YCMs), (d) possible chromosomal abnormal pregnancy in oligospermatozoa requiring ICSI (intracytoplasmic sperm injection), and (e) epigenetic alterations.
MAIN FINDINGS
The frequency of chromosome abnormalities in infertile patients is 0.595%-0.64%. YCMs are observed in 2%-10% of severe oligospermic men. High incidence of spermatozoa with chromosomal abnormalities has been reported in advanced oligospermia and asthenozoospermia that require ICSI. Some epigenetic alterations were reported in the children born with ART.
CONCLUSION
Certain genetic knowledge is important for professionals involved in reproductive medicine, even if they are not genetic experts.
PubMed: 33850446
DOI: 10.1002/rmb2.12361 -
The Journal of Clinical Endocrinology... Dec 2020Male infertility secondary to oligozoospermia is surprisingly common. Although a majority of cases are idiopathic, oligozoospermia can be caused by endocrine...
Male infertility secondary to oligozoospermia is surprisingly common. Although a majority of cases are idiopathic, oligozoospermia can be caused by endocrine dysfunction, anatomic abnormalities, medications, or environmental exposures. The work-up includes excluding reversible factors such as hormonal deficiency, medication effects, and retrograde ejaculation and identifying any underlying genetic syndrome and treating reversible medical causes. If no reversible cause is found, appropriate referrals to urology and assisted reproductive technology should be initiated. Lastly, clinicians should be aware of and respond to the psychological and general health ramifications of a diagnosis of oligozoospermia as part of the comprehensive care of men and couples struggling with a diagnosis of infertility.
Topics: Disease Management; Humans; Male; Oligospermia; Semen Analysis
PubMed: 32583849
DOI: 10.1210/clinem/dgaa390 -
Translational Andrology and Urology Apr 2019The global disease burden of end stage renal disease (ESRD) is growing rapidly, and organ transplantation remains the gold standard for improving both the quality and... (Review)
Review
The global disease burden of end stage renal disease (ESRD) is growing rapidly, and organ transplantation remains the gold standard for improving both the quality and quantity of life particularly in young adults. It is therefore critical to understand the effect of ESRD and renal transplantation on male fertility. Many men in renal failure exhibit subfertility or infertility due to several factors including hypogonadism, erectile dysfunction (ED), and direct impairment of spermatogenesis with spermatotoxicity and late stage maturational arrest causing oligospermia or azoospermia. Kidney transplantation has been shown to rescue some-but not all-of these defects, with normalization of reproductive hormonal parameters, improvement in semen parameters (sperm count, motility, morphology), and partial restoration of erectile function. This improvement in fertility is sufficient for a subset to father children either naturally or with assisted reproduction. In this review, we summarize the literature regarding fertility in men with chronic kidney disease (CKD) and on dialysis, and we describe the changes associated with renal transplantation.
PubMed: 31080778
DOI: 10.21037/tau.2018.07.16 -
EClinicalMedicine Nov 2020The current study aimed to determine the impact of SARS-CoV-2 infection on male fertility.
BACKGROUND
The current study aimed to determine the impact of SARS-CoV-2 infection on male fertility.
METHODS
This is a single-center, hospital-based observational study that included autopsied testicular and epididymal specimens of deceased COVID-19 male patients (=6) and recruited recovering COVID-19 inpatients (=23) with an equal number of age-matched controls, respectively. We performed histopathological examinations on testicular and epididymal specimens, and also performed TUNEL assay and immunohistochemistry. Whereas, we investigated the semen specimen for sperm parameters and immune factors.
FINDINGS
Autopsied testicular and epididymal specimens of COVID-19 showed the presence of interstitial edema, congestion, red blood cell exudation in testes, and epididymides. Thinning of seminiferous tubules was observed. The number of apoptotic cells within seminiferous tubules was significantly higher in COVID-19 compared to control cases. It also showed an increased concentration of CD3+ and CD68+ in the interstitial cells of testicular tissue and the presence of IgG within seminiferous tubules. Semen from COVID-19 inpatients showed that 39.1% (=9) of them have oligozoospermia, and 60.9% (=14) showed a significant increase in leucocytes in semen. Decreased sperm concentration, and increased seminal levels of IL-6, TNF-α, and MCP-1 compared to control males were observed.
INTERPRETATION
Impairment of spermatogenesis was observed in COVID-19 patients, which could be partially explained as a result of an elevated immune response in testis. Additionally, autoimmune orchitis occurred in some COVID-19 patients. Further research on the reversibility of impairment and developing treatment are warranted.
FUNDING
This study was supported by Ministry of Science and Technology of China Plan, Hubei Science and Technology Plan, National Key Research and Development Program of China, HUST COVID-19 Rapid Response Call, China and National Natural Science Foundation of China; these funding bodies are public institutions, and they had no role in study conception, design, interpretation of results, and manuscript preparation.
PubMed: 33134901
DOI: 10.1016/j.eclinm.2020.100604 -
Journal of Lasers in Medical Sciences 2022About 50% of infertility problems are related to male factors and reduced sperm motility. The important factor that affects the structure and function of sperm is... (Review)
Review
About 50% of infertility problems are related to male factors and reduced sperm motility. The important factor that affects the structure and function of sperm is reactive oxygen species (ROS), and over-concentration of ROS reduces the quality and motility of sperm. Photobiomodulation therapy (PBMT) using red to near-infrared (NIR) light is useful in oxidative stress restoration. It plays a therapeutic role in disorders such as asthenospermia, oligospermia cases, and cryopreserved sperm. It also enhances the metabolic capacity of sperm and increases the low-level and non-harmful intracellular content of Ca, nitric oxide (NO), and ROS in the stressed cells. Likewise, it modulates survival intracellular pathways and maintains the motility, viability, DNA, and acrosome integrity of sperm. This article reviews the state-of-the-art preclinical and clinical evidence regarding the efficacy of semen PBMT.
PubMed: 37041786
DOI: 10.34172/jlms.2022.75 -
BMC Medical Genomics Sep 2023Considering the essential roles that genetic factors play in azoospermia and oligospermia, this study aims to identify abnormal chromosomes using karyotyping and CNVs...
BACKGROUND
Considering the essential roles that genetic factors play in azoospermia and oligospermia, this study aims to identify abnormal chromosomes using karyotyping and CNVs and elucidate the associated genes in patients.
METHODS
A total of 1157 azoospermia and oligospermia patients were recruited, of whom, 769 and 674 underwent next-generation sequencing (NGS) to identify CNVs and routine G-band karyotyping, respectively.
RESULTS
First, 286 patients were co-analyzed using CNV sequencing (CNV-seq) and karyotyping. Of the 725 and 432 patients with azoospermia and oligospermia, 33.8% and 48.9% had abnormal karyotypes and CNVs, respectively. In particular, 47,XXY accounted for 44.18% and 26.33% of abnormal karyotypes and CNVs, respectively, representing the most frequent genetic aberration in azoospermia and oligospermia patients. Nevertheless, big Y and small Y accounted for 7.46% and 16.67% of abnormal karyotypes, respectively. We also identified high-frequency CNVs-loci, such as Xp22.31 and 2p24.3, in azoospermia and oligospermia patients.
CONCLUSION
Sex chromosome and autosomal CNV loci, such as Xp22.31 and 2p24.3, as well as the associated genes, such as VCX and NACAP9, could be candidate spermatogenesis genes. The high-frequency abnormal karyotypes, CNV loci, and hot genes represent new targets for future research.
Topics: Male; Humans; Azoospermia; Oligospermia; DNA Copy Number Variations; Karyotyping; Abnormal Karyotype
PubMed: 37684669
DOI: 10.1186/s12920-023-01652-2 -
Urologia Nov 2023Most genitourinary tract cancers have a negative impact on male fertility. Although testicular cancers have the worst impact, other tumors such as prostate, bladder, and... (Review)
Review
Most genitourinary tract cancers have a negative impact on male fertility. Although testicular cancers have the worst impact, other tumors such as prostate, bladder, and penis are diagnosed early and treated in relatively younger patients in which couple fertility can be an important concern. The purpose of this review is to highlight both the pathogenetic mechanisms of damage to male fertility in the context of the main urological cancers and the methods of preserving male fertility in an oncological setting, in light of the most recent scientific evidence. A systematic review of available literature was carried out on the main scientific search engines, such as PubMed, Clinicaltrials.Gov, and Google scholar. Three hundred twenty-five relevant articles on this subject were identified, 98 of which were selected being the most relevant to the purpose of this review. There is a strong evidence in literature that all of the genitourinary oncological therapies have a deep negative impact on male fertility: orchiectomy, partial orchiectomy, retroperitoneal lymphadenectomy (RPLND), radical cystectomy, prostatectomy, penectomy, as well as radiotherapy, chemotherapy, and hormonal androgen suppression. Preservation of fertility is possible and includes cryopreservation, hormonal manipulation with GnRH analogs before chemotherapy, androgen replacement. Germ cell auto transplantation is an intriguing strategy with future perspectives. Careful evaluation of male fertility must be a key point before treating genitourinary tumors, taking into account patients' age and couples' perspectives. Informed consent should provide adequate information to the patient about the current state of his fertility and about the balance between risks and benefits in oncological terms. Standard approaches to genitourinary tumors should include a multidisciplinary team with urologists, oncologists, radiotherapists, psycho-sexologists, andrologists, gynecologists, and reproductive endocrinologists.
Topics: Humans; Male; Fertility Preservation; Androgens; Infertility, Male; Testicular Neoplasms; Urologic Neoplasms
PubMed: 37491831
DOI: 10.1177/03915603221146147 -
Interdisciplinary Toxicology Oct 2019Aluminium (Al) is frequently accessible to animal and human populations to the extent that intoxications may occur. Intake of Al is by inhalation of aerosols or... (Review)
Review
Aluminium (Al) is frequently accessible to animal and human populations to the extent that intoxications may occur. Intake of Al is by inhalation of aerosols or particles, ingestion of food, water and medicaments, skin contact, vaccination, dialysis and infusions. Toxic actions of Al induce oxidative stress, immunologic alterations, genotoxicity, pro-inflammatory effect, peptide denaturation or transformation, enzymatic dysfunction, metabolic derangement, amyloidogenesis, membrane perturbation, iron dyshomeostasis, apoptosis, necrosis and dysplasia. The pathological conditions associated with Al toxicosis are desquamative interstitial pneumonia, pulmonary alveolar proteinosis, granulomas, granulomatosis and fibrosis, toxic myocarditis, thrombosis and ischemic stroke, granulomatous enteritis, Crohn's disease, inflammatory bowel diseases, anemia, Alzheimer's disease, dementia, sclerosis, autism, macrophagic myofasciitis, osteomalacia, oligospermia and infertility, hepatorenal disease, breast cancer and cyst, pancreatitis, pancreatic necrosis and diabetes mellitus. The review provides a broad overview of Al toxicosis as a background for sustained investigations of the toxicology of Al compounds of public health importance.
PubMed: 32206026
DOI: 10.2478/intox-2019-0007 -
Fertility and Sterility Jan 2018Stephenson JD, O'Shaughnessy EJ. Hypospermia and its relationship to varicocele and intrascrotal temperature. Fertil Steril 168;19(1):110-7. "There is a frequently...
Stephenson JD, O'Shaughnessy EJ. Hypospermia and its relationship to varicocele and intrascrotal temperature. Fertil Steril 168;19(1):110-7. "There is a frequently observed, definite relationship between varicocele and hypospermia." Moghissi KS. Human and bovine sperm migration. Fertil Steril 1968;19(1):118-22. "Van Leeuwenhoek's discovery of motile spermatozoa led to the conclusion that their migration was due to their own propellant activity."
Topics: Biomedical Research; Body Temperature Regulation; Fertility; History, 20th Century; Humans; Infertility, Male; Male; Oligospermia; Reproductive Medicine; Sperm Count; Sperm Motility; Spermatozoa; Varicocele
PubMed: 29274657
DOI: 10.1016/j.fertnstert.2017.11.007 -
Frontiers in Cell and Developmental... 2024Autophagy is an evolutionarily conserved cellular recycling process that maintains cellular homeostasis. Despite extensive research in endocrine contexts, the role of... (Review)
Review
Autophagy is an evolutionarily conserved cellular recycling process that maintains cellular homeostasis. Despite extensive research in endocrine contexts, the role of autophagy in ovarian and testicular steroidogenesis remains elusive. The significant role of autophagy in testosterone production suggests potential treatments for conditions like oligospermia and azoospermia. Further, influence of autophagy in folliculogenesis, ovulation, and luteal development emphasizes its importance for improved fertility and reproductive health. Thus, investigating autophagy in gonadal cells is clinically significant. Understanding these processes could transform treatments for endocrine disorders, enhancing reproductive health and longevity. Herein, we provide the functional role of autophagy in testicular and ovarian steroidogenesis to date, highlighting its modulation in testicular steroidogenesis and its impact on hormone synthesis, follicle development, and fertility therapies.
PubMed: 38827527
DOI: 10.3389/fcell.2024.1384047