Complete Absence Of Spermatozoa Research Articles

Whole-exome sequencing identifies rare recessive variants in azoospermia patients from consanguineous Pakistani families.

Azoospermia, a severe form of male infertility characterized by the complete absence of sperm in the ejaculate, affects about 1% of the male population, with most cases attributed to nonobstructive azoospermia (NOA) caused by gametogenic failure. NOA has various genetic origins, including chromosomal abnormalities, Y chromosome microdeletions, and monogenic mutations. Although whole-exome sequencing (WES) has identified over thirty candidate genes associated with NOA, the genetic causes of most cases have yet to be elucidated. In our study, we selected seven consanguineous families diagnosed with azoospermia from a total of 21 male infertile families recruited from the rural area of Pakistan. Blood samples were collected from both patients and fertile controls for DNA extraction, followed by WES to identify potential causative recessive monogenic variants linked to male infertility. We successfully identified five deleterious variants among five of the seven families, including three missense biallelic substitutions in WWC2, RPL10L, and SOHLH1, a hemizygous deletion in ESX1, and a homozygous deletion in TXNDC2, which have potentially pathogenic relevance to the azoospermia of human male infertility. These novel findings enhance our understanding of the molecular mechanisms underlying the complex etiology of azoospermia, offering valuable insights for genetic counseling and diagnostics and paving the way for future therapeutic approaches.

Linc00513 sponges miR-7 to modulate TGF-β signaling in azoospermia.

Azoospermia, or the complete absence of sperm in the ejaculate, affects about 1% of men worldwide and is a significant fertility challenge. This study investigates Linc00513, a long non-coding RNA, and its potential role in regulating the TGF-β signaling pathway, a key player in spermatogenesis, in the context of azoospermia. We show that Linc00513 expression is significantly lower in testicular tissues from azoospermic patients than in HS1 controls. Linc00513 interacts directly with microRNA-7 (miR-7) via complementary base pairing, acting as a competing endogenous RNA (ceRNA). This interaction effectively inhibits miR-7's inhibitory action on the TGF-β receptor 1 (TGFBR1), a critical component of the TGF-β signaling cascade. Downregulating Linc00513 reduces TGFBR1 repression and increases TGF-β signaling in azoospermic testes. Functional assays with spermatogonial cell lines support these findings. Silencing Linc00513 leads to increased cell proliferation and decreased apoptosis, similar to TGF-β inhibition. Overexpression of miR-7 inhibits the effects of Linc00513 on TGF-β signaling. Our study sheds new light on how Linc00513, miR-7, and the TGF-β signaling pathway interact in azoospermia. Linc00513 regulates TGFBR1 expression and thus influences spermatogonial cell fate by acting as a miR-7 ceRNA. These findings identify a potential therapeutic target for azoospermia treatment, paving the way for future research into restoring fertility in affected individuals.

The Odad3 Gene Is Necessary for Spermatozoa Development and Male Fertility in Mice.

Odad3 gene loss-of-function mutation leads to Primary Ciliary Dyskinesia (PCD), a disease caused by motile cilia dysfunction. Previously, we demonstrated that knockout of the Odad3 gene in mice replicates several features of PCD, such as hydrocephalus, defects in left-right body symmetry, and male infertility, with a complete absence of sperm in the reproductive tract. The majority of Odad3 knockout animals die before sexual maturation due to severe hydrocephalus and failure to thrive, which precludes fertility studies. Here, we performed the expression analysis of the Odad3 gene during gonad development and in adult testes. We showed that Odad3 starts its expression during the first wave of spermatogenesis, specifically at the meiotic stage, and that its expression is restricted to the germ cells in the adult testes, suggesting that Odad3 plays a role in spermatozoa formation. Subsequently, we conditionally deleted the Odad3 gene in adult males and demonstrated that even partial ablation of the Odad3 gene leads to asthenoteratozoospermia with multiple morphological abnormalities of sperm flagella (MMAF) in mice. The analysis of the seminiferous tubules in Odad3-deficient mice revealed defects in spermatogenesis with accumulation of seminiferous tubules at the spermiogenesis and spermiation phases. Furthermore, analysis of fertility in heterozygous Odad3+/- knockout mice revealed a reduction in sperm count and motility as well as abnormal sperm morphology. Additionally, Odad3+/- males exhibited a shorter fertile lifespan. Overall, these results suggest the important role of Odad3 and Odad3 gene dosage in male fertility. These findings may have an impact on the genetic and fertility counseling practice of PCD patients carrying Odad3 loss-of-function mutations.

Investigation of HER2 I655V and PHB 3′UTR C > T polymorphisms in azoospermic infertile males

BackgroundMale infertility is a complex, multifactorial pathological condition with a highly heterogeneous phenotypic variation, from complete absence of spermatozoa in the testicles (azoospermia) to marked changes in sperm quality. The Erb-B2 receptor tyrosine kinase 2 gene (ERBB2, also often called HER2) was hypothesized to be involved in spermatogenesis and Leydig cell steroidogenesis in males. Prohibitin (PHB) has been shown to regulate sperm motility in infertile men by changing mitochondrial membrane potential and increasing reactive oxygen species levels. In this study, we aimed to investigate the HER2 I655V and PHB 3′UTR C > T polymorphisms in azoospermic infertile males.MethodsOne hundred and thirty-three infertile males with idiopathic azoospermia and 100 healthy male controls were included in this study. Patient and control DNAs, which were extracted from peripheral blood, were analyzed using polymerase chain reaction and restriction fragment length polymorphism technics. For statistical evaluation, Chi-square and variance analyses were carried out using IBM SPSS (version 20.0) and Openepi (version 3.01) software programs.ResultsWe did not observe any differences between azoospermic infertile males and healthy male controls in terms of allele and genotype distributions of both the HER2 I655V and PHB 3′UTR C > T polymorphisms (p > 0.05). Moreover, composite genotype analyses did not show any differences between two groups (p > 0.05).ConclusionsNo association was found between HER2 I655V and PHB 3′UTR C > T polymorphisms and azoospermic male infertility. The study can be expanded further by increasing the number of samples and studying in various populations.

MORPHO-FUNCTIONAL CHARACTERISTICS OF THE TESTICLES OF MEN WITH DIFFERENT FORMS OF PATHOSPERMIA

The most difficult form of male infertility to treat is azoospermia. It is identified as a complete absence of sperm in the ejaculate. Depending on the nature and causes of impaired spermatogenesis, azoospermia is divided into obstructive (excretory, OA) and non-obstructive (secretory, NOA). Testicular biopsy is the most effective method of diagnosis and a component of possible treatment for azoospermia. It is the only objective method of differential diagnosis between non-obstructive and obstructive forms of azoospermia.
 The aim: histological analysis of testicular biopsies of men with various forms of azoospermia.
 Мaterials and Methods. 78 infertile men with azoospermia were examined. They were divided into two groups: the first group, men with NOA (n = 28); the second group, men with OA (n = 50). The biopsy was preceded by a mandatory ultrasound diagnosis of the portal system. The biopsy was performed using the method of open operative access. Biopsies were mostly taken from the more palpable testicle or from both testicles. Biopsies were fixed in buffered 10% formalin (pH 7.2). After 1 day, they were dehydrated in 70% ethanol and embedded in paraffin. For histological studies, sections with a thickness of 5 μm were stained with hematoxylin and eosin. Biopsies were evaluated in accordance with previously described methods.
 Results. Histological analysis of testicular biopsies from 28.7% of patients with a non-obstructive form of azoospermia showed swelling of the testicular stroma, destructive changes in testosterone-producing cells, disruption of the structure of the syncytial complexes of the spermatogenic epithelium, and the complete absence of the process of spermatogenesis in individual tortuous seminiferous tubules, the absence of contacts between sustentocytes, and in erythrocyte sludge in the lumen of vessels. 42.8% of patients had fibrosis of the testicular stroma, stroma swelling, thinning of the wall of convoluted seminiferous tubules, violation of the structure of the syncytial complexes of the spermatogenic epithelium, proliferation of the wall of the convoluted seminiferous tubules into their lumen, and infiltration of the testicular stroma with lymphocytes. In 54.0% of patients with preserved spermatogenesis and an obstructive form of azoospermia, it was possible to find a history of orchoepididymitis in the anamnesis; one patient (2.0%) underwent bilateral orchopexy at the age of 5 years due to cryptorchidism; 6.0% recalled the trauma calculi in the anamnesis; and 38.0% denied any factors affecting fecundity in the anamnesis.
 Conclusions. The non-obstructive form of azoospermia is characterized by the following parameters: mostly a violation of the structure of the spermatogenic epithelium, a complete absence of the process of spermatogenesis in individual convoluted seminiferous tubules, a violation of the structure of the hematotesticular barrier, and a violation of blood microcirculation. The histological picture of preserved spermatogenesis is of the same type in 88.0% of patients with an obstructive form of azoospermia. In most tubules, a fixed number of cell rows is preserved, and cells of various stages of spermatogenesis are determined in them: spermatogonies, spermatocytes, a moderate number of spermatids.
 In the lumen of the tubules, exfoliated cells and a moderate number of spermatozoa are found.

Testicular ultrasound examination and hemodynamics of patients with azoospermia

The most difficult form of male infertility to treat is azoospermia. Azoospermia is defined as the complete absence of spermatozoa in the ejaculate. The age of the patients who underwent clinical and diagnostic studies varied between 22 and 45 years. Among 119 examined patients with azoospermia, 58.0% were diagnosed with secretory infertility. In 42.0% patients, the presence of spermatogenesis in excretory-obturational infertility was established. Among 69 patients with secretory infertility, 23 had azoospermia in the absence of spermatozoa and spermatogenic cells, which accounted for 33.3% of all patients with secretory infertility (in particular, 2 with leukocytospermia, which indicated damage to the tubular apparatus as a result of previous orchitis). In 66.6% patients, azoospermia was observed in the absence of spermatozoa, but in the presence of precursor cells of spermatogenesis. 11.5% patients out of 69 (group 1) were diagnosed with concomitant diseases. We see that arterial hypertension, diseases of the gastrointestinal tract, liver, and kidneys occur. Hereditary diseases were not detected in the examined patients. Pain of varying intensity was found in 6.7% of patients, varying degrees of testicular hypoplasia were found in 7.6%, dysuria in 13.4%, epididymitis in history 8.4%; history of epidemic mumps 6.7%; 12.6% had depression, restlessness, sleep disorders, and 21.0% had erectile dysfunction. According to clinical examination and ultrasound, chronic prostatitis is suspected in 19.2% of patients. An increase in the number of leukocytes in the blood was found in 13.2% patients. According to ultrasound, 60.5% of the patients with azoospermia had normal testicular sizes, and 39.5% had reduced testes. The volume of the testicles in the control group was 22.3 ± 2.1 cm³ on average, varying from 18.3 to 25.1 cm³. In the group with azoospermia, the volume of the testicles was on average 16.7 ± 1.7 cm³ and varied from 8.2 to 21.1 cm³, that is, the volume of the testicles in patients with azoospermia was on average 1.3 times smaller compared to normozoospermia. In the obstructive form of azoospermia, diffuse changes were detected in both testicles, probably obturational changes. Hypoplasia of the left testicle and increased echogenicity were observed in the non-obstructive form of azoospermia. The veins of the spermatic cord were moderately dilated. There was a normal amount of free fluid in the scrotum. According to elastography, the elasticity of the testicles was above normal. Obturational processes in the testicles were suspected. The hemodynamic parameters of testicular parenchymal blood flow in infertile men obtained by ultrasound dopplerography are of important diagnostic value. The average value of the linear blood flow velocity in the arteries of the parenchyma in men with normozoospermia was 0.107 ± 0.015 m/s on the right, and 0.103 ± 0.012 m/s on the left. With azoospermia, the average value of the linear velocity of blood flow on the right was 0.086 ± 0.012 m/s, and on the left – 0.084 ± 0.008 m/s. Thus, the hemodynamic indicators of the scrotum show that the most pronounced changes are found in men with azoospermia in the absence of spermatogenesis.

A Comparative Cross-Platform Analysis to Identify Potential Biomarker Genes for Evaluation of Teratozoospermia and Azoospermia.

Male infertility is a global public health concern. Teratozoospermia is a qualitative anomaly of spermatozoa morphology, contributing significantly to male infertility, whereas azoospermia is the complete absence of spermatozoa in the ejaculate. Thus, there is a serious need for unveiling the common origin and/or connection between both of these diseases, if any. This study aims to identify common potential biomarker genes of these two diseases via an in silico approach using a meta-analysis of microarray data. In this study, a differential expression analysis of genes was performed on four publicly available RNA microarray datasets, two each from teratozoospermia (GSE6872 and GSE6967) and azoospermia (GSE145467 and GSE25518). From the analysis, 118 DEGs were found to be common to teratozoospermia and azoospermia, and, interestingly, sperm autoantigenic protein 17 (SPA17) was found to possess the highest fold change value among all the DEGs (9.471), while coiled-coil domain-containing 90B (CCDC90B) and coiled-coil domain-containing 91 (CCDC91) genes were found to be common among three of analyses, i.e., Network Analyst, ExAtlas, and GEO2R. This observation indicates that SPA17, CCDC90B, and CCDC91 genes might have significant roles to play as potential biomarkers for teratozoospermia and azoospermia. Thus, our study opens a new window of research in this area and can provide an important theoretical basis for the diagnosis and treatment of both these diseases.

Natural bee honey and Conservation of drone semen in liquid nitrogen

Purpose: Conducting a honey diluent test for creeples of sperm of a drone honey bee.Materials and methods. The material for the research served a sperm of the milled drone drums of the "Prioksky" type of the Midway breed of bees. The selection of sperm was carried out in June-July 2020 g by the method of artificial stimulation of the turning of the endofalosha in half-armed drones aged 25-30 days. The rock type "Prioksky" of the middle Russian breed of bees. Before freezing, the sperm was stored in glass capillaries in the cooled state at 3 ° C for 2 months. The following composition of the diluent was tested - 10% honey, lactose, sucrose, egg yolk and dimethyl sulfoxide.Results. Studies have shown the viability of sperm at 64.0 ± 1.8% (41.5-83.7), and a total mobility of 2.2 ± 0.6% (0-11.5). To evaluate the fertilizing ability of sperm, carried out artificial insemination of 10 bee modules. In 4 seeded bees dykens, the presence of sperm in a seed-hearter with a concentration of sperm from 0.22-4.4 million / μl is revealed. In paired eggs of three other seeded matters, the presence of sperm and the complete absence of spermatozoa in the seed-receptionist are recorded.Conclusion. Tests of the honey diluent for deep freezing sperm of the drone honey bees in liquid nitrogen confirmed its cryophylactic properties.

Reversible infertility in male dog following prolonged treatment of Malassezia dermatitis with ketoconazole

BackgroundKetoconazole, an antifungal agent, adversely affects spermatogenesis in rodents, but knowledge on adverse effects of prolonged administration of ketoconazole on the fertility of male dogs is lacking. A case of reversible infertility with azoospermia in a male American Staffordshire terrier treated with ketoconazole is reported here.Case presentationA seven-year old male American Staffordshire terrier treated for 3 months with ketoconazole for a persistent Malassezia dermatitis displayed reduced libido and mating of 3 bitches had been unsuccessful. The dog was presented at the clinic 40 days after the treatment had been stopped. At first presentation, low libido and complete absence of sperm in the ejaculate (azoospermia) associated with low testosterone level were found. Repeated examinations revealed that sperm quality and testosterone level had restored 100 days after ketoconazole had been withdrawn. Thereafter, the dog successfully mated 2 bitches.ConclusionThe treatment with ketoconazole for 3 months may have led to reversible infertility characterized by azoospermia. Therefore, owners of stud dogs should be informed of this risk prior to initiating such treatment and in case of infertility, previous treatment with ketoconazole should be considered as a possible cause.

MBOAT1 homozygous missense variant causes nonobstructive azoospermia

Nonobstructive azoospermia (NOA) is a common cause of infertility and is defined as the complete absence of sperm in ejaculation due to defective spermatogenesis. The aim of this study was to identify the genetic etiology of NOA in an infertile male from a Chinese consanguineous family. A homozygous missense variant of the membrane-bound O-acyltransferase domain-containing 1 (MBOAT1) gene (c.770C>T, p.Thr257Met) was found by whole-exome sequencing (WES). Bioinformatic analysis also showed that this variant was a pathogenic variant and that the amino acid residue in MBOAT1 was highly conserved in mammals. Quantitative polymerase chain reaction (Q-PCR) analysis showed that the mRNA level of MBOAT1 in the patient was 22.0% lower than that in his father. Furthermore, we screened variants of MBOAT1 in a broader population and found an additional homozygous variant of the MBOAT1 gene in 123 infertile men. Our data identified homozygous variants of the MBOAT1 gene associated with male infertility. This study will provide new insights for researchers to understand the molecular mechanisms of male infertility and will help clinicians make accurate diagnoses.

O-150 Predicting the sperm retrieval of microsurgical testicular sperm extraction (mTESE) in infertile men with azoospermia on the day of TESE-ICSI

Abstract Study question Is the sperm retrieval rate of a small, pre-processed sample (PPS) of each TESE-biopsy representative for the sperm outcome on the day of ICSI? Summary answer The analysis of a PPS reliably reflects the probability of finding comparable numbers of sperm at time of TESE-ICSI. What is known already Azoospermia is defined as a condition where no spermatozoa are found in the ejaculate and is diagnosed in up to 15% among infertile men and in 11% of all patients attending our centre. The combination of testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI) has become the standard treatment of azoospermic patients. However, no validated standard procedure has been identified to predict the exact sperm outcome of the cryopreserved TESE samples prior to TESE-ICSI so far. For optimal management of TESE-biopsies and the respective ICSI treatment, we developed a stepwise approach for the analysis of tissue samples. Study design, size, duration We retrospectively analysed the outcome of 872 microsurgically retrieved testicular biopsies of 198 patients of legal age who had a TESE-ICSI at our department between 2009 and 2019. From all 872 mTESE biopsies the number of sperm extracted from a small, pre-processed sample (PPS) before freezing procedure were known. The PPS was then compared to the number of sperm retrieved from the corresponding thawed specimen on the day of TESE-ICSI. Participants/materials, setting, methods During micro-TESE eight samples per testis are retrieved, then 1/10 of each biopsy is removed, digested with collagenase and screened for spermatozoa (pre-processed sample, PPS). If less than 100 spermatozoa are detected the absolute sperm number is recorded, otherwise the result is displayed as the maximum value of 100 sperm. On the day of ICSI, one or more TESE biopsies are thawed and processed for TESE-ICSI; the absolute sperm number is counted again. Main results and the role of chance Comparing the sperm yield of 872 TESE samples at time of ICSI to its respective PPS showed a similar sperm outcome with a minor deviation of ± 5 spermatozoa in 73.6% of all biopsies. However, 12.9% of the specimen had less and 13.4% had more spermatozoa. A negative sperm retrieval in the initial PPS was confirmed in 93.1% (268/288). PPS with 1-4 spermatozoa had a 27.2% (43/158) risk of complete absence of sperm on the day of ICSI, yet sperm detection (≥1 sperm) was positive in 72.8% (115/158) of the biopsies. With initially ≥5 spermatozoa present in the PPS, only 0.9% (4/426) of the biopsies had no sperm on the day of ICSI, vice versa 99.1% (422/426) were spermatozoa positive. A significant (p = 0.01) and strong (rs = 0.926) correlation of the sperm retrieval rates of the PPS and the ICSI sample was found meaning that the PPS reflects very well the sperm retrieval rate of the cryopreserved mTESE biopsy thawed at time of TESE-ICSI. However, if ≤ 4 sperm are found in the PPS, there is a relevant risk for a negative sperm retrieval on the day of ICSI and the couple should be carefully advised before start of treatment. Limitations, reasons for caution This analysis focussed on sperm prediction in cases of severe male factor infertility and therefore the sperm yield on the day of ICSI was chosen as primary outcome. The reproductive competence of the retrieved sperm in terms of pregnancy and birth rates should be subject to further investigation. Wider implications of the findings Treatment options for azoospermic patients are mostly related to the ability to find sperm on the day of ICSI. However, validated standards for sperm processing are missing. Therefore, a PPS seems to be a good option for prediction of sperm retrieval and improves counselling of the patients prior to TESE-ICSI. Trial registration number not applicable

Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report.

Small supernumerary marker chromosomes (sSMCs) are defined as structurally abnormal chromosomes that may be detected pre- or postnataly in patients with developmental and/or mental retardation or infertility. sSMC on chromosome 15 accounts for the highest proportion of all sSMCs and may be detected in subfertile individuals. The present study reports the case of a male patient with oligoasthenoteratozoospermia and an sSMC. The sSMC was identified and characterized according to G-banding analysis, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) analysis. Chromosomal karyotype analysis suggested that the patient presented with 47,XY,+mar. CMA was used to characterize the sSMC, which revealed a 0.44-Mb microduplication in 6q25.3q26. Subsequently, FISH using centromere-specific probes for chromosomes 13/21, 14/22 and 15 was applied to identify the origin of the sSMC, which was finally determined to be inverted duplicated(15)(q11.2). It was hypothesized that heterochromatin in the sSMC is responsible for the patient's fertility problem. The presence of heterochromatin may disrupt regular meiosis, thereby affecting normal spermatogenesis. Impaired spermatogenesis in infertile males with an sSMC derived from chromosome 15 was also reviewed by searching published literature and the sSMC database (http://ssmc-tl.com/sSMC.html). For patients with low sperm parameters and complete absence of spermatozoa in the ejaculate, including infertile males with an sSMC with spermatozoa, intracytoplasmic sperm injection is considered as an effective assisted reproductive technique. It may be concluded that molecular cytogenetic techniques are critical tools for delineating sSMCs in infertile males and may be beneficial in identifying sSMC carriers to ensure they receive clinical genetic counseling.

Epigenetic Inactivation of SOX30 Is Associated with Male Infertility and Offers a Therapy Target for Non-obstructive Azoospermia

Non-obstructive azoospermia (NOA) is the most severe form of male infertility. However, the etiology of NOA is largely unknown, resulting in a lack of clinical treatments. Here, we performed a comparative genome-wide profiling of DNA methylation and identified SOX30 as the most notably hyper-methylated gene at promoter in testicular tissues from NOA patients. This hyper-methylation at promoter of SOX30 directly causes its silencing of expression in NOA. The reduced levels of SOX30 expression are correlated with severity of NOA disease. Deletion of Sox30 in mice uniquely impairs testis development and spermatogenesis with complete absence of spermatozoa in testes leading to male infertility, but does not influence ovary development and female fertility. The pathology and testicular size of Sox30 null mice highly simulate those of NOA patients. Re-expression of Sox30 in Sox30 null mice at adult age reverses the pathological damage of testis and restores the spermatogenesis. The re-presented spermatozoa after re-expression of Sox30 in Sox30 null mice have the ability to start a pregnancy. Moreover, the male offspring of Sox30 re-expression Sox30 null mice still can father children, and these male offspring and their children can live normally more than 1 year without significant difference of physical appearance compared with wild-type mice. In summary, methylated inactivation of SOX30 uniquely impairs spermatogenesis, probably causing NOA disease, and re-expression of SOX30 can successfully restore the spermatogenesis and actual fertility. This study advances our understanding of the pathogenesis of NOA, offering a promising therapy target for NOA disease.

Evaluation of Kisspeptin Level in Non Obstructive Azoospermic Patients

AbstractBackground: Non-obstructive azoospermia is characterized by the complete absence of sperm in the ejaculate due to testicular failure. One of the genetic causes of non-obstructive azoospermia is the mutations in kisspeptin hormone and the kisspeptin hormone receptor (Kiss1r) genes. The level of kisspeptin hormone has been investigated in patients with non-obstructive azoospermia.Aim of Study: The aim of the study was to evaluate the level of kisspeptin hormone (KISS1) in the serum of non-obstructive azoospermic males and its relation to fertility hormones (Follicle Stimulating Hormone (FSH), Luteinizing Hormone (LH), Testosterone and Prolactin).Patients and Methods: This case control study was done from August 2017 to August 2018 & included 25 non-obstructive azoospermic patients & 25 cases of age matched healthy fertile control subjects. After full history taking and general and local examination, Kisspeptin level was measured using ELISA. Follicle Stimulating Hormone (FSH), Luteinizing Hormone (LH), Testosterone (T) and Prolactin hormone (PRL) were also measured.Results: The mean value of kisspeptin hormone was significantly lower in cases (6.30±2.07ng/ml) than controls (36.70±9.64ng/ml). The patients had significant high level of FSH (p-value <0.001), high level of LH (p-value=0.001) and low level of Testosterone (p-value=0.022). No correlation was found between plasma kisspeptin levels and (FSH, LH, Testosterone & Prolactin).Conclusion: Kisspeptin level is lower in non-obstructive azoospermic infertile males than the fertile controls, so it might be used as a diagnostic tool for infertility and treatment of infertility disorders in patients proved to have a low level of kisspeptin hormone.

A new MEIOB mutation is a recurrent cause for azoospermia and testicular meiotic arrest.

Are there genetic variants that can be used for the clinical evaluation of azoospermic men? A novel homozygous frame-shift mutation in the MEIOB gene was identified in three azoospermic patients from two different families. Up to 1% of all men have complete absence of sperm in the semen, a condition known as azoospermia. There are very few tools for determining the etiology of azoospermia and the likelihood of sperm cells in the testis. The MEIOB gene codes for a single-strand DNA binding protein required for DNA double-strand breaks repair during meiosis. MEIOB appears to be exclusively expressed in human and mouse testis, and MeioB knockout mice are azoospermic due to meiotic arrest. Two brothers with non-obstructive azoospermia (NOA) underwent whole-exome sequencing followed by comprehensive bioinformatics analyses. Candidate variations were further screened in infertile and fertile men, as well as in public and local reference databases. This study included 159 infertile and 77 fertile men. The exomes of two Arab men were completely sequenced. In addition, 213 other men of the same Arab ethnicity (136 infertile and 77 fertile men) underwent restriction fragment length polymorphism (RFLP) screening, as did 21 NOA men, of other ethnicities, with testicular impairment of spermatocyte arrest. All of the infertile men underwent Y-chromosome microdeletion and CFTR gene mutation assessments. Comprehensive bioinformatics analyses were designed to uncover candidate mutations associated with azoospermia. A novel homozygous frame-shift mutation in the MEIOB gene was identified in two brothers of Arab ethnicity. This frame-shift is predicted to result in a truncated MEIOB protein, which lacks the conserved C-terminal DNA binding domain. RFLP screening of the mutation in 157 infertile men, including 112 NOA patients of Arab ethnicity, identified an additional unrelated NOA patient with the same homozygous mutation and a similar testicular impairment. This mutation was not found in available public databases (n > 160 000), nor in the 77 proven fertile men, nor in our database of local Israeli population variations derived from exome and genome sequencing data (n = 500). We have thus far screened for only two specific MEIOB probable pathogenic mutations in a relatively small local cohort. Therefore, the relative incidence of MEIOB mutations in azoospermia should be further assessed in larger and diverse cohorts in order to determine the efficiency of MEIOB sequence screening for clinical evaluations. The relatively high incidence of likely NOA-causing mutations in MEIOB that was found in our cohort supports the idea that a complete screening of this gene might be beneficial for clinical evaluation of NOA patients. This research was supported in part by a grant to EA from the European Research Council under the European Union's Seventh Framework Programme (FP/2007-2013)/ERC grant agreement (616088). There are no competing interests. N/A.

Bio-physical effects of radiofrequency electromagnetic radiation (RF-EMR) on blood parameters, spermatozoa, liver, kidney and heart of albino rats

Current study aimed at determining the consequence of Radiofrequency (≈1800 MHz) electromagnetic radiation (RF-EMR) on the histological, hematological and histochemical properties of selected tissues of rat and to assess morphological changes associated with such exposures. Three groups of thirty rats of which two groups of twenty rats were subjected to average radiation of ≈1.40 W/cm2 at 24 m from the base of two different telecommunications network mast for 5 weeks. Histochemical, hematological and histological analyses of the rats were afterward carried out on selected tissues of the experimental animals using standard procedures. Impacts of radiation were noted in the exposed groups of rats. There was rise in white blood cells with variations in other blood parameters; the sperm motility and sperm count of the exposed rats is lower than the control; the liver of the exposed rats shows pronounced dilated sinusoids, distorted architecture, hyperchromatic nuclei, congested central vein, with change of hepatocytes structure; the heart shows gross distortion of cardiac muscular architecture with distorted irregular cardiac muscle fibres and wider interfibres spaces; kidney showing hyperchromatic nuclei, gradual loss and degeneration of flattened squamous epithelial cells lining and testis shows grossly distorted seminiferous tubules and epididymis with loss of cellular structure and an area of inflammatory changes with complete absence of spermatozoa, which may lead to low fertility. This study shows that radiofrequency electromagnetic radiation may induce morphological changes in various tissues of living systems in rat.

Just the Two of Us: Involuntary Childlessness, Causes and Consequences

In the recent decades there has been a growing trend towards controlling fertility yet the desire to have at least one child seems overwhelmingly universal. Involuntarily childless couples undergo trauma and face stigma. Causes of infertility are linked with physiological malfunction. Studies have shown that, social change and its subsequent change in lifestyle along with other social cultural factors are linked to menstruation, conception and carrying the pregnancy full term. The present qualitative study included in-depth interviews with couples experiencing involuntary childlessness, gynaecologists and infertility specialists from Pune city. Majority of the respondents seeking medical assistance belong to the age group of 20–35 years. The causes of infertility can be categorized into genetic, physiological and lifestyle related. The common problems observed in males are lack of sperm motility, count or complete absence of sperm, whereas in females it is obesity and polycystic ovaries syndrome which can be a consequence of erratic and stressful lifestyle. The present research will help trace the socio cultural causes of infertility and the socio cultural pressures of the couples seeking treatment. If along with medical treatment, they are helped to deal with socio cultural circumstances then it may help to mitigate their circumstances.

Antisperm protein targets in azoospermia men.

BACKGROUND:The number of couples that meet the definition of infertility at reproductive ages is increasing worldwide. One of the most known conditions of infertility in males is azoospermia, defined as complete absence of spermatozoa in the semen. Azoospermia manifests in two forms, namely obstructive and non-obstructive azoospermia. Although the presence of antisperm antibody (ASA) has been reported in 88% of the patients with obstructive azoospermia (OA), interestingly, there is no data regarding ASA targets in OA individuals.AIM:The present study aimed to identify sperm antibody targets in a group of OA men.SETTINGS AND DESIGN:The present study was carried out on 27 OA infertile men and 27 healthy fertile age-matched males as cases and controls, respectively.SUBJECTS AND METHODS:The sperm proteome was separated using two-dimensional gel electrophoresis technique, transferred onto the polyvinylidene fluoride membrane, and blotted with the sera of a group of OA men. Then, it was compared with the membranes blotted with the sera of a group of healthy fertile men. Matrix-assisted laser desorption/ionization time-of-flight/time-of-flight (MALDI TOF/TOF) mass spectrometry was used to identify the different blotted spots and finally the results of the mass analysis were confirmed using reverse transcriptase polymerase chain reaction method.RESULTS:The results indicated that OA patients might produce antibody against two sperm proteins, Tektin-2 and triose phosphate isomerase. Moreover, the expressions of the two targeted proteins were confirmed at RNA level.CONCLUSIONS:The findings of the present study revealed two functionally important sperm proteins as antibody targets in azoospermic men.

Uso de cobre asociado a plata y niquel: Un avance en contracepción intrauterina

El agregado de plata y de níquel aumenta la efectividad contraceptiva de los DIU con cobre. Se presenta un estudio clínico en 672 mujeres con 6,982 meses-uso. Las tasas de embarazos fueron de 0.0% a los 12 meses de uso en 245 mujeres con dispositivos conteniendo Cu + Ag y Cu + Ni. Con cobre sólo, los embarazos fueron de 1.5 % y con el mismo DIU sin metal, de 4.4 %. Un grupo control de 200 mujeres con Lippes C y D mostró 2.5 % de embarazos. Las incidencias de primeras expulsiones y de hemorragias fueron aproximadamente el doble que con Lippes, debido probablemente al diseño del artefacto antes que a los metales. No hubo diferencias significativas en las expulsiones posteriores y ocurrencia de dolor y leucorrea. Se discute la factibilidad del uso de los pares Cu + Ag y Cu + Ni en un modelo de DIU más adecuado. Mediante pruebas de recuperación espermática postcoital en 76 pacientes se ha demostrado la casi total ausencia de espermios en la cavidad uterina en presencia de DIU metálicos, mientras que en los DIU sin metal la migración espermática no quedó afectada. Esto puede constituir un mecanismo adicional de la mayor efectividad contraceptiva de los metales intrauterinos.

Use of Large-Volume, Fixed-Depth, Disposable Slides for Post-Vasectomy Semen Analysis

Vasectomy is the surgical procedure used for male contraception. Traditionally, operative success has been established by the issue of a laboratory report stating the achievement of azoospermia. The purpose of this study is to establish if this is an achievable or realistic status and if a change to the current best practice would provide an acceptable and cost-effective alternative. In principle, human fecundity is complex and measured in probabilities, which is inconsistent with the implied absolute requirement to establish the complete absence of spermatozoa.