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Reproductive Sciences (Thousand Oaks,... Jun 2024Oligo-astheno-teratozoospermia (OAT), which is a common cause of male infertility, can be caused by genetic factors. This study reports on a case of a male patient...
Oligo-astheno-teratozoospermia (OAT), which is a common cause of male infertility, can be caused by genetic factors. This study reports on a case of a male patient suffering from infertility concomitant with OAT. Whole-exome sequencing (WES) confirmed the presence of a homozygous variant (NM_003462: c.464-1G > A) in the DNALI1 gene via Sanger sequencing. Immunofluorescence staining demonstrated that the DNALI1 signal was nearly undetectable in the patient's sperm. Bioinformatics analysis revealed that this mutation could reverse the splicing of the exon 4 acceptor splice site. A minigene experiment was performed to verify the mutation and the results confirmed that the mutation disrupted the splicing. Our findings show that this rare mutation in DNALI1 contributes to male infertility and OAT in humans, thereby expanding our understanding of the causes and pathogenesis of male infertility. This knowledge facilitates genetic counseling, clinical diagnosis, and therapeutic development of male infertility.
Topics: Humans; Male; Infertility, Male; Mutation; Asthenozoospermia; Oligospermia; Adult; Teratozoospermia; RNA Splicing; Exome Sequencing
PubMed: 38212584
DOI: 10.1007/s43032-023-01451-1 -
Investigative and Clinical Urology Jan 2024Infertility affects 10% to 15% of couples, and male factor accounts for 50% of the cases. The relevant male genetic factors, which account for at least 15% of male...
PURPOSE
Infertility affects 10% to 15% of couples, and male factor accounts for 50% of the cases. The relevant male genetic factors, which account for at least 15% of male infertility, include Y-chromosome microdeletions. We investigated clinical data and patterns of Y-chromosome microdeletions in Korean infertile men.
MATERIALS AND METHODS
A total of 919 infertile men whose sperm concentration was ≤5 million/mL in two consecutive analyses were investigated for Y-chromosome microdeletion. Among them, 130 infertile men (14.1%) demonstrated Y-chromosome microdeletions. Medical records were retrospectively reviewed.
RESULTS
In 130 men with Y-chromosome microdeletions, 90 (69.2%) had azoospermia and 40 (30.8%) had severe oligozoospermia. The most frequent microdeletions were in the azoospermia factor (AZF) c region (77/130, 59.2%), followed by the AZFb+c (30/130, 23.1%), AZFa (8/130, 6.2%), AZFb (7/130, 5.4%), AZFa+b+c (7/130, 5.4%), and AZFa+c (1/130, 0.7%) regions. In men with oligozoospermia, 37 (92.5%) had AZFc microdeletion. Chromosomal abnormalities were detected in 30 patients (23.1%). Higher follicle-stimulating hormone level (23.2±13.5 IU/L vs. 15.1±9.0 IU/L, p<0.001), higher luteinizing hormone level (9.7±4.6 IU/L vs. 6.0±2.2 IU/L, p<0.001), and lower testis volume (10.6±4.8 mL vs. 13.3±3.8 mL, p<0.001) were observed in azoospermia patients compared to severe oligozoospermia patients.
CONCLUSIONS
Y-chromosome microdeletion is a common genetic cause of male infertility. Therefore, Y-chromosome microdeletion test is recommended for the accurate diagnosis of men with azoospermia or severe oligozoospermia. Appropriate genetic counseling is mandatory before the use of assisted reproduction technique in men with Y-chromosome microdeletion.
Topics: Male; Humans; Azoospermia; Oligospermia; Retrospective Studies; Semen; Infertility, Male; Republic of Korea
PubMed: 38197754
DOI: 10.4111/icu.20230141 -
Archivio Italiano Di Urologia,... Nov 2023We aimed to assess seminal calbindin 2 (CALB 2) expression in men with different semen parameters as well as its correlation with reproductive hormones in azoospermic...
OBJECTIVES
We aimed to assess seminal calbindin 2 (CALB 2) expression in men with different semen parameters as well as its correlation with reproductive hormones in azoospermic patients and different semen parameters in oligoasthenoteratozoospermic patients. CALB 2 is also known as calretinin and 29 kDa calbindin.
MATERIALS AND METHODS
This prospective study was performed on 96 cases from the andrology outpatient clinic divided into 3 groups as follows: group 1 including 32 non obstructive azoospermic (NOA) patients, group 2 including 32 patients with oligoasthenoteratozoospermia (OAT), and Group 3 including normozoospermic individuals as controls. Semen analysis and estimation of seminal CALB 2 concentrations by enzyme linked immunosorbent assay (ELISA) technique were performed for all participants. Reproductive hormones were measured in nonobstructive NOA patients.
RESULTS
The mean seminal CALB 2 level was higher in OAT patients compared to NOA patients and controls (7.8 ± 1.30 ng/ml, 7.3 ± 0.80 and 7.4 ± 1.0, respectively). Furthermore, the study had shown strong positive correlations between CALB 2 and sperm normal forms in controls and OAT patients. In contrast, there was no significant correlation between seminal CALB 2 and any of the reproductive hormones measured in NOA patients.
CONCLUSIONS
Seminal CALB 2 may play a role in increasing the abnormal forms in OAT patients.
Topics: Humans; Male; Azoospermia; Oligospermia; Calbindin 2; Asthenozoospermia; Prospective Studies; Infertility, Male; Semen; Hormones
PubMed: 38193226
DOI: 10.4081/aiua.2023.11906 -
European Review For Medical and... Dec 2023Infertility impacts a substantial number of couples worldwide, and about 50% of cases are linked to male factors. The analysis of seminal fluid composition can improve...
OBJECTIVE
Infertility impacts a substantial number of couples worldwide, and about 50% of cases are linked to male factors. The analysis of seminal fluid composition can improve diagnostic accuracy and offer deeper insights into the pathophysiology of male factor infertility. This study seeks to identify novel markers for diagnosing and treating male infertility by comparing organic acid profiles in the seminal fluid of individuals with normospermia, oligospermia, and azoospermia.
PATIENTS AND METHODS
Semen samples were collected from men with normospermia, oligospermia, and azoospermia. The organic acid profile in the seminal fluid was analyzed using liquid chromatography-mass spectrometry/mass spectrometry (LC/MS-MS). Data analysis was performed using SPSS and MetaboAnalyst.
RESULTS
The study revealed significant differences in metabolite levels among normospermic, oligospermic, and azoospermic individuals. In groups with oligospermia, there were significant decreases in the levels of 2-OH-Isovaleric Acid, 3-Methyl-2-Oxovaleric Acid, Ethyl-Malonic Acid, Citric Acid, Oxoproline, Malic Acid, N-Acetyl-Aspartic Acid, Suberic Acid, Glutaconic Acid, and Succinic Acid. Similarly, individuals with azoospermia exhibited a notable reduction in the levels of Citric Acid, Malic Acid, and Suberic Acid. Furthermore, according to the Variable Importance in the Projection (VIP) score analysis, Ethyl-Malonic Acid, Glycolic Acid, and 3-Methyl-2-Oxovaleric Acid were identified as crucial factors for diagnosis and potential treatment strategies.
CONCLUSIONS
The data obtained from the study highlights the significant potential of metabolites in assessing infertility and gaining a more in-depth understanding of the underlying pathological mechanisms.
Topics: Humans; Male; Oligospermia; Azoospermia; Semen; Infertility, Male; Citric Acid
PubMed: 38164856
DOI: 10.26355/eurrev_202312_34791 -
The World Journal of Men's Health Jul 2024Augmented adiposity may negatively impact sexual sphere through its metabolic effects and its detrimental impact on reproductive hormones. Moreover, a dysregulated...
PURPOSE
Augmented adiposity may negatively impact sexual sphere through its metabolic effects and its detrimental impact on reproductive hormones. Moreover, a dysregulated metabolic pathway may promote apoptosis among spermatogenic cells. Based on these premises, a relation between weights loss and ameliorate semen parameters seems beneficial. To investigate if physical activity may affect semen parameters and fertility rate, a systematic literature search on major dataset has been performed.
MATERIALS AND METHODS
The search terms included: "Assisted reproduction therapies," "fertility," "semen parameters," "sperm parameters," and "physical activity." This analysis was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-analysis guidelines and it was registered on PROSPERO (CRD42023384471). A total of 47 studies have been identified; 1 reference has been eliminated after duplication check. After preliminary screening 32 papers have been excluded. Considering the exclusion criteria, 15 full-text articles were evaluated for eligibility. After a full-text review, six studies published during a span of eight years (2014-2022) have been included in the meta-analysis. Semen parameters, pregnancy and birth rates were investigated. The revised Cochrane risk of bias tool (Rob2) has been used to check the risk of bias.
RESULTS
The number of patients enrolled in studies ranges from 17 to 521; in the end, a total of 1,637 patients have been enrolled in the study. Fertility parameters investigated were semen quality parameters and pregnancy rates and live births. A statistically significant relationship between physical exercise and sperm concentration (p=0.02), total sperm motility (p<0.01), total sperm count (p<0.01), normal morphology (p<0.01) has been established. Moreover, the study registered a statistically significant association within physical activity and total pregnancy rate (p<0.01) and live birth rate (p<0.01).
CONCLUSIONS
We demonstrated that physical activity is significantly associated with amelioration of semen parameters and may be crucial in improving or even reverting male infertility.
PubMed: 38164031
DOI: 10.5534/wjmh.230106 -
The Yale Journal of Biology and Medicine Dec 2023: The aim of this study was to investigate whether chia () seeds, which are rich in omega-3 fatty acids, amino acids, and vitamins with antioxidant properties, can...
Protective Effects of Chia Seeds and Omega-3 Fatty Acid against Cyclophosphamide-Induced Oligospermia in Male Wistar Rats: Potential Risks of Adverse Drug Interaction with Chia Seeds.
: The aim of this study was to investigate whether chia () seeds, which are rich in omega-3 fatty acids, amino acids, and vitamins with antioxidant properties, can mitigate the negative effects on male reproductive function caused by cyclophosphamide, a frequently used chemotherapeutic agent. : Male wistar rats are divided into seven groups (n=6). All groups except the normal control (NC) received cyclophosphamide (30mg/kg, i.p.) for the first 5 days. The standard group received clomiphene citrate (0.25 mg/kg, p.o.). Treatment groups T1%, T5%, T10%, and ω-3 received 1%, 5%, and 10% chia seeds in the diet, and 880 mg/kg omega-3 fatty acid (p.o) respectively for 15 days. The effect on the reproductive system was evaluated by analysis of epididymal sperm characteristics, biochemical parameters, and serum testosterone level. : Clomiphene citrate improved oligospermia via hormone mediated effect. Chia seeds and omega-3 fatty acid treatment also showed improvement in reproductive parameters including oxidative stress and histological features of the testes. Omega-3 fatty acid treatment was more effective for the prevention of cyclophosphamide toxicity on testes as compared to chia seeds. Nasal bleeding was noted in several animals subjected to chia seed treatment. This occurrence might be attributed to chia seeds' impact on coagulation and/or platelet function, potentially heightened due to chemotherapy associated bone marrow suppression. : In our study, chia seeds as well as omega-3 fatty acid treatment were found to be protective against cyclophosphamide-induced reproductive toxicity in rats. However, the adverse effect of hemorrhage associated with drug interaction of chia seeds with cytotoxic chemotherapeutic drugs needs careful attention and further investigation.
Topics: Humans; Male; Rats; Animals; Fatty Acids, Omega-3; Rats, Wistar; Salvia; Oligospermia; Seeds; Cyclophosphamide; Drug Interactions; Clomiphene
PubMed: 38161578
DOI: 10.59249/PAEJ4854 -
Cellular and Molecular Biology... Dec 2023This study aimed to analyze the correlation between the microdeletion of different regions of the azoospermia factor (AZF) gene and semen parameters, sex hormone levels,...
This study aimed to analyze the correlation between the microdeletion of different regions of the azoospermia factor (AZF) gene and semen parameters, sex hormone levels, and karyotypes in infertile males by retrospective study. This was performed to obtain a comprehensive understanding of the clinical data of AZF microdeletion in infertile males, to guide clinical diagnoses and treatments, and to improve the efficacy and safety of assisted reproductive technology. For this purpose, Fifty-seven patients with AZF microdeletions and complete data were selected from 1916 patients with AZF microdeletions in our hospital from January 2020 to August 2022. The correlation between semen parameters, sex hormone levels, and chromosome karyotypes of these 57 patients was analyzed. Results showed that among the 57 patients with AZF microdeletions, the region with the highest microdeletion rate was AZFc with 57.89%; single or combined deletions in AZFa and AZFb regions resulted in azoospermia. The deletion frequency of AZFc in the oligospermia group was significantly higher than that in the azoospermia group, and the deletion frequencies of AZFb and AZFb + c in the azoospermia group were significantly higher than those in the oligospermia group (P<0.05). There were statistically significant differences in follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels, and chromosome karyotypes between patients with azoospermia and oligospermia (P<0.05). Statistically significant differences were observed in prolactin (PRL), FSH, testosterone (T), LH levels, and chromosome karyotypes of patients in different AZF microdeletion regions (P<0.05). In conclusion, AZF microdeletions can lead to a decline in semen quality in men, and different types of deletions have different effects on semen parameters, sex hormone levels, and karyotype analysis. Further treatments should be selected based on the AZF microdeletion area.
Topics: Male; Humans; Azoospermia; Oligospermia; Semen Analysis; Semen; Retrospective Studies; Chromosome Deletion; Chromosomes, Human, Y; Infertility, Male; Karyotype; Gonadal Steroid Hormones; Follicle Stimulating Hormone
PubMed: 38158680
DOI: 10.14715/cmb/2023.69.13.17 -
Reproductive Toxicology (Elmsford, N.Y.) Jan 2024SP-Max herbal capsule formulation contains Withania somnifera, Asparagus recemosus, Mucuna pruriens, Chlorophytum arundinaceum, Ipomoea digitata, and Dioscorea bulbifera...
SP-Max herbal capsule formulation contains Withania somnifera, Asparagus recemosus, Mucuna pruriens, Chlorophytum arundinaceum, Ipomoea digitata, and Dioscorea bulbifera which are reported in the 'Ayurveda', an Indian Traditional System of medicine as aphrodisiacs. The present study focused on the effect of herbomineral formulation, SP-Max in the treatment of oligospermia. Oligospermia was induced in male Swiss Albino mice by a single intraperitoneal injection of busulfan at a dose of 45 mg/kg. SP-Max herbomineral formulation was given at various doses of 130, 270, and 390 mg/kg for 45 days. Treatment with SP-Max herbomineral formulation at 130, 270 and 390 mg/kg doses significantly improved the sperm count, sperm motility and viability (p < 0.001). SP-Max treatment at a dose of 390 mg/kg significantly prevented the loss of anti-oxidant enzymes in testicular cells. SP-Max prevented the reduction in the level of testosterone, luteinizing hormone, and follicle-stimulating hormone. Histological findings showed that SP-Max treatment prevented degeneration of spermatid, interstitial cells, and Sertoli cells of the testes and also improved epididymal sperm count. High dose of SP-Max treatment i.e 390 mg/kg found to be more effective. Results showed that SP-Max herbomineral formulation is an effective treatment option for oligospermia by decreasing free radical damage to the testes and improving the levels of reproductive hormones.
Topics: Humans; Male; Mice; Animals; Oligospermia; Busulfan; Sperm Motility; Seeds; Testis; Testosterone; Follicle Stimulating Hormone; Sperm Count
PubMed: 38123000
DOI: 10.1016/j.reprotox.2023.108525 -
Reproductive Biomedicine Online Feb 2024What are current practices of post-treatment fertility preservation in male childhood cancer survivors (CCS) who have not benefitted from pre-therapeutic fertility...
RESEARCH QUESTION
What are current practices of post-treatment fertility preservation in male childhood cancer survivors (CCS) who have not benefitted from pre-therapeutic fertility preservation in France and other European countries?
DESIGN
A survey was conducted of all fertility preservation centres in France (n = 30) and European fertility specialists (n = 9) in five European countries. Eight clinical cases and 40 questions were included to assess the effect of age at diagnosis, type of treatment (alkylating-agents, orchidectomy, testicular radiotherapy) and sperm parameters on the probability of a post-treatment fertility preservation proposal. Demographic characteristics of the responding practitioner were also collected.
RESULTS
Post-treatment sperm cryopreservation was proposed by 100% of fertility specialists in cases of severe oligoasthenoteratozoospermia, 77-88% in cases of moderate oligoasthenoteratozoospermia and in 65-77% in cases of sperm motility and vitality impairment. In cases of normal sperm parameters, 27-54% of fertility specialists would propose post-treatment sperm cryopreservation. These results did not differ significantly according to the type of treatment received or to responder-related factors. Practices of European specialists were also guided by sperm parameter results; 44-67% of specialists responding that they would propose sperm cryopreservation in cases of moderate to severe sperm parameter alterations.
CONCLUSION
Post-treatment semen analysis could be widely proposed to CCS who have not benefitted from pre-therapeutic fertility preservation. Post-treatment fertility preservation could be proposed in cases of persistent moderate to severe sperm parameter alterations. Guidelines would be important to homogenize practices and to encourage oncologists to refer CCS for fertility assessments.
Topics: Male; Humans; Young Adult; Cancer Survivors; Oligospermia; Sperm Motility; Semen; Cryopreservation; Spermatozoa; Fertility Preservation; Semen Preservation; Neoplasms
PubMed: 38113762
DOI: 10.1016/j.rbmo.2023.103573 -
Georgian Medical News Oct 2023The Lichtenstein method revolutionized the treatment of inguinal hernias. But this method is accompanied by serious complications, as evidenced by the publications of...
The Lichtenstein method revolutionized the treatment of inguinal hernias. But this method is accompanied by serious complications, as evidenced by the publications of recent years. Such complications include the development of fibrous changes in the scrotum, deejaculation, obstructive azoospermia, oligospermia. Therefore, in the treatment of inguinal hernia, the so-called isolation methods are becoming more and more relevant, which implies complete isolation from the rope mesh and does not affect spermatogenesis. Aim of the study - to compare the morphological parameters of sperm before and after hernia surgery in the groups that underwent modeled herniaplasty by Lichtenstein's method and with spermatic cord isolation from a mesh by Gvenetadze. 16 male rabbits aged 12 months ± 3 months, weighing 3.5 ± 0.5 kg were included in the study. Of these, 8 (50%) underwent hernioplasty by Lichtenstein's method, and 8 (50%) - with complete isolation of Bagirak. Gvenetadze's method. Rabbits were divided into two groups. The first group: 8 rabbits, which underwent Lichtenstein's hernia surgery. The second group: 8 rabbits, which underwent hernioplasty with complete isolation of the sacrum using the Gvenetadze method. In both groups, a spermomorphocytological study was performed 2 days before the operation and 3 months and 6 months after the operation. The study included a complete spermomorphocytological examination by studying the following sperm parameters: sperm volume, color, turbidity, ejaculatory time, stickiness, odor, PH, number of spermatozoa in 1 ml, number of spermatozoa in the whole ejaculate, live spermatozoa, motile spermatozoa, progressive motile spermatozoa, Normal morphological of permatozoites Molds, leukocytes, erythrocytes, lipoid bodies, spermagglutination, fungi, bacteria, mucus. Semen were collected 2 days before surgery, 3 months after surgery, and 6 months after surgery. The sperm was obtained using the so-called "artificial vagina". Our study showed that inguinal hernia repair with spermatic cord isolation does not affect spermatogenesis.
Topics: Female; Animals; Male; Rabbits; Hernia, Inguinal; Semen; Surgical Mesh; Spermatogenesis; Herniorrhaphy; Treatment Outcome; Recurrence
PubMed: 38096521
DOI: No ID Found