Articles de revues : « Non-obstructive azoospermia, male infertility »

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Vorobets, M. Z., O. V. Melnyk, I. V. Kovalenko, R. V. Fafula, A. T. Borzhievsky et Z. D. Vorobets. « Сondition of urogenital tract microbiotes and pro- and antioxidant system in male azoospermia ». Regulatory Mechanisms in Biosystems 12, n^o 4 (20 octobre 2021) : 696–701. http://dx.doi.org/10.15421/022196.

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Over the past 20 years, there has been a clear trend to increase in the number of infertile men in Ukraine, their percentage reaches 50% in infertile couples. There is a significant percentage of male infertility caused by azoospermia – the lack of sperm in the ejaculate. In male infertility, azoospermia is found in 10–15% of patients, among other forms of pathospermia. Given the ambiguity of ideas about the etiology, pathogenesis and treatment and diagnostic approaches for various types of infertility, it remains important to clarify the relationship of urogenital infections with the regulatory systems of cells, including the state of the pro- and antioxidant system and the search for additional markers. 119 patients with various forms of azoospermia were examined. All patients underwent the following studies: spermogram, infectious screening, inhibin B, lipid peroxidation, activity of enzymes of the glutathione antioxidant system in sperm plasma and blood serum. Infectious screening included analysis of urethral secretions, bacteriological examination of sperm or prostate secretion, assessment of the species and quantitative composition of the microflora of the male urogenital tract. According to the results of spermogram and other diagnostic methods, a non-obstructive form of azoospermia was detected in 69 patients. In obstructive azoospermia, ejaculate as such was absent. It is suggested that inhibin B may be an important medical diagnostic test for azoospermia. As a result of the conducted researches the importance of determining the concentration of inhibin B as a marker of azoospermia was demonstrated and a negative correlation of moderate strength between the content of inhibin B and testosterone level in the plasma of men with non-obstructive azoospermia was revealed. It was found that Ureaplasma pervum and Ureaplasma urealyticum infect the male genitourinary system to the greatest extent among a number of microorganisms, both in non-obstructive and obstructive forms of azoospermia. Enterococcus faecalis is more pronounced in the sperm fluid in the non-obstructive form of azoospermia and prostate secreton in the obstructive form of azoospermia. In the non-obstructive form of azoospermia in the seminal plasma and serum, the processes of lipid peroxidation intensify, the concentration of reduced glutathione decreases and the activities of the enzymes of the glutathione antioxidant system (glutathione peroxidase and glutathione transferase) decrease. It can be considered that an important diagnostic test for the nonobstructive form of azoospermia is the ratio of reduced glutathione to oxidized glutathione in sperm plasma.

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Elia, Jlenia, Rossella Mazzilli, Michele Delfino, Maria Piane, Cristina Bozzao, Vincenzo Spinosa, Luciana Chessa et Fernando Mazzilli. « Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility ». Archivio Italiano di Urologia e Andrologia 86, n^o 3 (30 septembre 2014) : 171. http://dx.doi.org/10.4081/aiua.2014.3.171.

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Objective. The aim of this study was to evaluate the prevalence of most common mutations and intron 8 5T (IVS8-5T) polymorphism of CFTR gene in Italian: a) azoospermic males; b) non azoospermic subjects, male partners of infertile couples enrolled in assisted reproductive technology (ART) programs. Material and methods. We studied 242 subjects attending our Andrology Unit (44 azoospermic subjects and 198 non azoospermic subjects, male partners of infertile couples enrolled in ART programs). Semen analysis, molecular analysis for CFTR gene mutations and genomic variant of IVS8-5T polymorphic tract, karyotype and chromosome Y microdeletions, hormonal profile (LH, FSH, Testosterone) and seminal biochemical markers (fructose, citric acid and L-carnitine) were carried out. Results. The prevalence of the common CFTR mutations and/or the IVS8-5T polymorphism was 12.9% (4/31 cases) in secretory azoospermia, while in obstructive azoospermia was 84.6% (11/13 cases; in these, the most frequent mutations were the F508del, R117H and W1282X). Regarding the non azoospermic subjects, the prevalence of the CFTR and/or the IVS8-5T polymorphism was 11.1% (11/99 cases) in severe dyspermia, 8.1% (6/74 cases) in moderate dyspermia and finally 4.0% (1/25 cases) in normospermic subjects. Conclusions. This study confirms the highly significant prevalence of CFTR mutations in males with bilateral absence of the vas deferens or ejaculatory ducts obstruction compared with subjects with secretory azoospermia. Moreover, the significant prevalence of mutations in severely dyspermic subjects may suggest the possible involvement of CFTR even in the spermatogenic process. This could explain the unsatisfactory recovery of sperm from testicular fine needle aspiration in patients affected by genital tract blockage.

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Kulshrestha, S., A. Makrigiannakis et P. Patrizio. « The CFTR gene : male infertility and assisted conception ». Reproductive Medicine Review 7, n^o 2 (juillet 1999) : 155–60. http://dx.doi.org/10.1017/s0962279999000277.

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Approximately 30–40% of couples seeking fertility treatments have male factor infertility. Their dysfunctions include azoospermia, oligozoospermia, asthenozoospermia and teratozoospermia. Those with azoospermia represent about 25% of the total, and of these about 30% have an obstructive process while the remaining have either primary or secondary testicular failure. In the obstructive azoospermia group, 25% of males have congenital bilateral absence of the vas deferens (CBAVD).

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Hooda, Ruchi, K. K. Gopinathan et Geeta Devi. « Fertility outcome after intracytoplasmic sperm injection with surgically retrieved sperm in obstructive and non-obstructive azoospermia ». International Journal of Reproduction, Contraception, Obstetrics and Gynecology 11, n^o 10 (27 septembre 2022) : 2760. http://dx.doi.org/10.18203/2320-1770.ijrcog20222474.

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Background: Azoospermia is a highly upcoming subject in the last few decades. In the past, use of donor sperm was the only option providing a realistic chance of conception for couples affected by azoospermia. Introduction of sperm retrieval techniques and assisted reproductive technologies, especially intracytoplasmic sperm injection (ICSI), has provided these men a chance to father their genetically own child and changed the management approach significantly. The aim of this study was to compare the outcome of intracytoplasmic sperm injection (ICSI) of surgically retrieve sperms between couples with infertility due to male non-obstructive azoospermia (NOA) and obstructive azoospermia (OA).Methods: It was a retrospective observational study and data analysis was conducted at Centre for Infertility and Assisted Reproduction (CIMAR), Edappal, Kerala, India from January 2018 to December 2021. The selection of cases was based on detailed history, physical examination, husband’s semen analysis confirmed twice and hormone profile. During a period of four years, 754 azoospermic patients were diagnosed at our centre. In this study, female age <35 years considered as the inclusion criteria as female age plays a pivotal role for IVF/ICSI outcome, while patient in whom voluntary donor sperm used, patients in whom sperm retrieval failed, female age >35 years and female associated with any pathology which can alter the treatment outcome e.g., endometriosis, severe adenomyosis, diminished ovarian reserve, fibroid uterus were excluded from the study groups. On the basis of serum FSH, serum testosterone and testicular size and considering inclusion and exclusion criteria, patients were subdivided into two group as: group A (n=75) included patients with non-obstructive azoospermia and group B (n=75) included patients with obstructive azoospermia, underwent ICSI.Results: Clinical pregnancy rate, fertilization and implantation rate were found to be higher in OA cases in comparison to those of NOA cases. Grade A embryo formation rate and miscarriage rate showed no significant difference.Conclusions: As the cause of azoospermia is different in both the groups, the chances of achieving a successful outcome (fertilization rate, embryo formation rate, and clinical pregnancy rate) after ICSI are negatively affected by the type of azoospermia and are reduced in men with NOA in comparison to patients with OA.

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S. Ambulkar, Prafulla, et Sunil S. Pande. « Study of Y-Chromosome Microdeletions in Azoospermic Infertile Males using Multiplex PCR Analysis ». Biosciences, Biotechnology Research Asia 15, n^o 2 (27 juin 2018) : 351–57. http://dx.doi.org/10.13005/bbra/2639.

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The infertility affects about 15% of couples and male factors being responsible about 40-50%. In male infertility, genetic abnormalities of Y chromosome play crucial role in spermatogenesis defect. Y chromosome q arm having Azoospermia factor region (AZFa, AZFb, and AZFc) are most important for spermatogenesis. Here, we investigated the frequencies of Y-chromosome microdeletions using three sets of multiplex PCR in idiopathic cases of azoospermia. We studied a total of 110 infertile male with non-obstructive azoospermia subjects & 50 fertile control subjects. All DNA samples were used for Y chromosome microdeletions analysis by using 11 STS markers in three different multiplex PCR of AZF regions. Out of 110 infertile azoospermic males, 14 (12.72%) infertile males showed partial deletion of AZF regions using three sets of multiplex PCR group. In the AZF microdeletions of infertile males, individually AZFc region was the most deletions sites (10%) followed by AZFb (6.36%) and AZFa (1.81%). The sites and sizes of microdeletions differ in all infertile azoospermic males who showed at least two or more STS markers microdeletions. The frequency of Y chromosome microdeletions in our azoospermic infertile males is 12.72%. We conclude that Y chromosome microdeletions frequency in azoospermic infertile males is higher than other infertile group due to severe impairment in spermatogenesis. Multiplex PCR screening of microdeletions is very useful and time saving technique when used more number of STS markers. It will be great help to infertility clinics for genetic counseling and assisted reproduction.

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Jaillard, Sylvie, Kenneth McElreavy, Gorjana Robevska, Linda Akloul, Farah Ghieh, Rajini Sreenivasan, Marion Beaumont et al. « STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia ». Molecular Human Reproduction 26, n^o 9 (7 juillet 2020) : 665–77. http://dx.doi.org/10.1093/molehr/gaaa050.

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Abstract Infertility, a global problem affecting up to 15% of couples, can have varied causes ranging from natural ageing to the pathological development or function of the reproductive organs. One form of female infertility is premature ovarian insufficiency (POI), affecting up to 1 in 100 women and characterised by amenorrhoea and elevated FSH before the age of 40. POI can have a genetic basis, with over 50 causative genes identified. Non-obstructive azoospermia (NOA), a form of male infertility characterised by the absence of sperm in semen, has an incidence of 1% and is similarly heterogeneous. The genetic basis of male and female infertility is poorly understood with the majority of cases having no known cause. Here, we study a case of familial infertility including a proband with POI and her brother with NOA. We performed whole-exome sequencing (WES) and identified a homozygous STAG3 missense variant that segregated with infertility. STAG3 encodes a component of the meiosis cohesin complex required for sister chromatid separation. We report the first pathogenic homozygous missense variant in STAG3 and the first STAG3 variant associated with both male and female infertility. We also demonstrate limitations of WES for the analysis of homologous DNA sequences, with this variant being ambiguous or missed by independent WES protocols and its homozygosity only being established via long-range nested PCR.

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Abdelaal, Nesma E., Bereket Molla Tanga, Mai Abdelgawad, Sahar Allam, Mostafa Fathi, Islam M. Saadeldin, Seonggyu Bang et Jongki Cho. « Cellular Therapy via Spermatogonial Stem Cells for Treating Impaired Spermatogenesis, Non-Obstructive Azoospermia ». Cells 10, n^o 7 (14 juillet 2021) : 1779. http://dx.doi.org/10.3390/cells10071779.

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Male infertility is a major health problem affecting about 8–12% of couples worldwide. Spermatogenesis starts in the early fetus and completes after puberty, passing through different stages. Male infertility can result from primary or congenital, acquired, or idiopathic causes. The absence of sperm in semen, or azoospermia, results from non-obstructive causes (pretesticular and testicular), and post-testicular obstructive causes. Several medications such as antihypertensive drugs, antidepressants, chemotherapy, and radiotherapy could lead to impaired spermatogenesis and lead to a non-obstructive azoospermia. Spermatogonial stem cells (SSCs) are the basis for spermatogenesis and fertility in men. SSCs are characterized by their capacity to maintain the self-renewal process and differentiation into spermatozoa throughout the male reproductive life and transmit genetic information to the next generation. SSCs originate from gonocytes in the postnatal testis, which originate from long-lived primordial germ cells during embryonic development. The treatment of infertility in males has a poor prognosis. However, SSCs are viewed as a promising alternative for the regeneration of the impaired or damaged spermatogenesis. SSC transplantation is a promising technique for male infertility treatment and restoration of spermatogenesis in the case of degenerative diseases such as cancer, radiotherapy, and chemotherapy. The process involves isolation of SSCs and cryopreservation from a testicular biopsy before starting cancer treatment, followed by intra-testicular stem cell transplantation. In general, treatment for male infertility, even with SSC transplantation, still has several obstacles. The efficiency of cryopreservation, exclusion of malignant cells contamination in cancer patients, and socio-cultural attitudes remain major challenges to the wider application of SSCs as alternatives. Furthermore, there are limitations in experience and knowledge regarding cryopreservation of SSCs. However, the level of infrastructure or availability of regulatory approval to process and preserve testicular tissue makes them tangible and accurate therapy options for male infertility caused by non-obstructive azoospermia, though in their infancy, at least to date.

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Kutsenko, A. O. « The analysis of the efficiency of the program ІМSI at fertilization in vitro ». HEALTH OF WOMAN, n^o 6(112) (29 juillet 2016) : 28–32. http://dx.doi.org/10.15574/hw.2016.112.28.

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The aim of the study: to analyze the results of the program ІМSI as one of the methods of VRT to ensure in vitro fertilization. Materials and methods. The basis of the study consisted of 100 couples with male factor infertility. Pair was examined and treated at the Institute of reproductive medicine (Kiev) in 2013-2015. The Diagnosis verified, assistance was provided in the framework of standard clinical protocols. The 51 men were diagnosed oligoasthenozoospermia, obstructive and non-obstructive azoospermia - in 28 and 21 men, respectively. Results. There were identified features according to the results of cycles. When native - biochemical pregnancy achieved almost equally often oligoasthenozoospermia and obstructive azoospermia (53.0±6.9% and 53.4±9.4%), whereas non-obstructive in two times less (28.6±9.8%). When critical the difference in results is not traced with obstructive and non-obstructive azoospermia and was 16% lower in cases of oligoasthenozoospermia. Biochemical pregnancies occurred in 63 of the 100 pairs (63.0±4.8%), with oligoasthenozoospermia and 37 of 51 (72.5 per cent), obstructive azoospermia – in 19 of 28 (67.8 per cent), non-obstructive – 7 of 21 (33.3 percent). After reproductive losses (5 of 63, 7.9% as) the end result was lower – 58.0±4.9 per cent. The number of births in total in the group with oligoasthenozoospermia was 35 of 51 (68.6%), obstructive and non-obstructive azoospermia - 17 of 28 (60.7 per cent) and 6 of 21 (28.6 per cent), respectively. Conclusion. The data motivate the need of finding opportunities to improve program performance ІМSI. Promising in this regard is the preparation of the pair to her conduct, which goes beyond the limits of the medical, carried out according to the protocols. An important point should be the identification and leveling of risk factors for general medicine and a social plan. Key words: male infertility, the program ІМSI, results.

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Omolaoye, Temidayo S., Victor A. Omolaoye, Richard K. Kandasamy, Mahmood Yaseen Hachim et Stefan S. Du Plessis. « Omics and Male Infertility : Highlighting the Application of Transcriptomic Data ». Life 12, n^o 2 (14 février 2022) : 280. http://dx.doi.org/10.3390/life12020280.

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Male infertility is a multifaceted disorder affecting approximately 50% of male partners in infertile couples. Over the years, male infertility has been diagnosed mainly through semen analysis, hormone evaluations, medical records and physical examinations, which of course are fundamental, but yet inefficient, because 30% of male infertility cases remain idiopathic. This dilemmatic status of the unknown needs to be addressed with more sophisticated and result-driven technologies and/or techniques. Genetic alterations have been linked with male infertility, thereby unveiling the practicality of investigating this disorder from the “omics” perspective. Omics aims at analyzing the structure and functions of a whole constituent of a given biological function at different levels, including the molecular gene level (genomics), transcript level (transcriptomics), protein level (proteomics) and metabolites level (metabolomics). In the current study, an overview of the four branches of omics and their roles in male infertility are briefly discussed; the potential usefulness of assessing transcriptomic data to understand this pathology is also elucidated. After assessing the publicly obtainable transcriptomic data for datasets on male infertility, a total of 1385 datasets were retrieved, of which 10 datasets met the inclusion criteria and were used for further analysis. These datasets were classified into groups according to the disease or cause of male infertility. The groups include non-obstructive azoospermia (NOA), obstructive azoospermia (OA), non-obstructive and obstructive azoospermia (NOA and OA), spermatogenic dysfunction, sperm dysfunction, and Y chromosome microdeletion. Findings revealed that 8 genes (LDHC, PDHA2, TNP1, TNP2, ODF1, ODF2, SPINK2, PCDHB3) were commonly differentially expressed between all disease groups. Likewise, 56 genes were common between NOA versus NOA and OA (ADAD1, BANF2, BCL2L14, C12orf50, C20orf173, C22orf23, C6orf99, C9orf131, C9orf24, CABS1, CAPZA3, CCDC187, CCDC54, CDKN3, CEP170, CFAP206, CRISP2, CT83, CXorf65, FAM209A, FAM71F1, FAM81B, GALNTL5, GTSF1, H1FNT, HEMGN, HMGB4, KIF2B, LDHC, LOC441601, LYZL2, ODF1, ODF2, PCDHB3, PDHA2, PGK2, PIH1D2, PLCZ1, PROCA1, RIMBP3, ROPN1L, SHCBP1L, SMCP, SPATA16, SPATA19, SPINK2, TEX33, TKTL2, TMCO2, TMCO5A, TNP1, TNP2, TSPAN16, TSSK1B, TTLL2, UBQLN3). These genes, particularly the above-mentioned 8 genes, are involved in diverse biological processes such as germ cell development, spermatid development, spermatid differentiation, regulation of proteolysis, spermatogenesis and metabolic processes. Owing to the stage-specific expression of these genes, any mal-expression can ultimately lead to male infertility. Therefore, currently available data on all branches of omics relating to male fertility can be used to identify biomarkers for diagnosing male infertility, which can potentially help in unravelling some idiopathic cases.

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S. Vishwekar, Pallavi, Nikita Lad, Mamta Shivtare et Pradnya Shetty. « ICSI outcome in surgically retrieved sperm compared with ejaculated sperm control ». International Journal of Reproduction, Contraception, Obstetrics and Gynecology 8, n^o 3 (26 février 2019) : 869. http://dx.doi.org/10.18203/2320-1770.ijrcog20190847.

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Background: Globally, the prevalence of infertility is around 10% of the total population. 30% of these have male factor infertility. Azoospermia is found in 1% of men, in 20% of which, the etiology is a bilateral obstruction of the male genital tract while others have non obstructive azoospermia. In azoospermic men sperms are microsurgically retrieved from epididymis and testes by TESA and PESA respectively. The aim of this study was to evaluate the outcomes of intracytoplasmic sperm injection ICSI using surgically retrieved sperm of azoospermic men either obstructive or nonobstructive and to compare it with ejaculated sperms in men having severe oligospermia.Methods: This was retrospective cohort study conducted based on the data collected from our reproductive endocrinology and infertility unit, 126 ICSI cycles performed during the period of 5 years were taken and divided into two groups, one with patients having ejaculated sperms with oligospermia and other group with patients who had surgically retrieved normal sperms due to azoospermia. Outcome of these ICSI cycles included fertilization, cleavage, biochemical and clinical pregnancy was assessed.Results: In present study it was found that ICSI outcome was comparable in both the groups with ejaculated sperm and surgically retrieved sperm as fertilization rate (72% vs 65%), Implantation Rate (58 vs 51%), clinical pregnancy rate (CPR) (51% vs 44.82%) observed with ejaculated or retrieved sperm group respectively showed no statistical difference.Conclusions: Present study shows that minimally invasive techniques of PESA and TESA can be successfully performed to retrieve sperm for ICSI in the treatment of azoospermic men which gives them the chance to father their biological child. The result of this study indicates that treatment outcomes of PESA/TESA-ICSI cycles compare favourably with that of ICSI using ejaculated sperm.

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Hauptman, Dinko, Marta Himelreich Perić, Tihana Marić, Ana Katušić Bojanac, Nino Sinčić, Zoran Zimak, Željko Kaštelan et Davor Ježek. « Leydig Cells in Patients with Non-Obstructive Azoospermia : Do They Really Proliferate ? » Life 11, n^o 11 (19 novembre 2021) : 1266. http://dx.doi.org/10.3390/life11111266.

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Background: Non-obstructive azoospermia (NOA) is a form of male infertility caused by disorders of the testicular parenchyma and impaired spermatogenesis. This study aimed to investigate the nature of Leydig cell changes in patients with NOA, especially whether their actual proliferation occurred. Methods: 48 testicular biopsies from infertile patients with NOA and 24 testicular biopsies originating from azoospermic patients suffering from obstructive azoospermia (OA) were included in the study. Leydig cells and their possible proliferative activity were analysed by immunohistochemistry and morphometry (stereology). Results: Unlike in the OA group, Leydig cells in NOA patients were sometimes organised into larger clusters and displayed an abundant cytoplasm/hypertrophy. Moreover, significant fibrosis of the interstitial compartment was demonstrated in some NOA samples, often accompanied by inflammatory cells. Stereological analysis showed no increase/proliferation of Leydig cells; on the contrary, these cells decreased in number in the NOA group. Conclusions: The decrease in the number of Leydig cells can be explained by previous inflammatory changes within the testicular interstitium and consequent interstitial fibrosis. The interstitial fibrosis might have a deteriorating effect on Leydig cells.

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Geng, Dongfeng, Xiao Yang, Hongguo Zhang, Xiaojun Liu, Yang Yu, Yuting Jiang, Ruizhi Liu et Guirong Zhang. « Association of single nucleotide polymorphism c.673C>A/p.Gln225Lys in SEPT12 gene with spermatogenesis failure in male idiopathic infertility in Northeast China ». Journal of International Medical Research 47, n^o 2 (29 novembre 2018) : 992–98. http://dx.doi.org/10.1177/0300060518811770.

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Male infertility is a complex multifactorial disease affecting approximately 10% of couples who want to have children. Some cases of infertility can be explained by genetic factors. Septins are members of the GTPase superfamily, which are involved in diverse biological processes including morphogenesis, compartmentalization, cytokinesis, and apoptosis. The septin 12 gene, SEPT12, is expressed exclusively in post-meiotic male germ cells and is considered as a critical gene for spermatogenesis. In this study, we evaluated 200 patients with non-obstructive azoospermia and detected mutations of 25 spermatogenesis-associated genes by targeted exome sequencing. We report a missense SEPT12 variant, c.673C>A/p.Gln225Lys, in an infertile man with non-obstructive azoospermia. The variation was located inside the GTPase domain and had a SIFT score of 0.02 (<0.50) and was considered to be ‘probably damaging’ by PolyPhen. This case may provide clues to help establish the relationship between SEPT12 gene alterations and some cases of idiopathic male infertility. The role of this variant should thus be investigated further.

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Bac, Nguyen Hoai, et Hoang Long. « Study on clinical and genetic characteristics of male patients with non-obstructive azoospermia ». Tạp chí Nghiên cứu Y học 141, n^o 5 (30 juin 2021) : 39–45. http://dx.doi.org/10.52852/tcncyh.v141i5.211.

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We examined 501 patients with non - obstructive azoospermia to evaluate clinical, subclinical, and genetic characteristics. The results show that the average age of patients in the study was 29.8 ± 5.5 years. Primary infertility accounts for the majority, with a rate of 90.3%. There was 38.6% of patients had a history of mumps orchitis. The average levels of FSH, LH, testosterone were 31.6 ± 16.5 mIU/mL, 15.5 ± 10 mIU/mL and 12.8 ± 7.13 nmol/L, respectively. The prevalence of chromosomal abnormalities was 30.7%. Of these, the sex chromosome aneuploidy with 47,XXY karyotype (Klinefelter syndrome) accounted for 27.3%. The incidence of AZF microdeletion was 13.8%. Of these, AZFc deletion was the most common at the rate of 42.1%, AZFa deletion, which accounted for 2.6%, were the least prevalent, and the frequency of AZFd deletion was 5.3%. However, there was no solitary AZFb deletion, which combined with other AZF deletions with 34.2%. Our research shows that mumps orchitis and chromosomal abnormalities are the leading causes of azoospermia. Screening for genetic abnormalities plays an important role in infertile patients with non - obstructive azoospermia.

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Silber, SJ. « A modern view of male infertility ». Reproduction, Fertility and Development 6, n^o 1 (1994) : 93. http://dx.doi.org/10.1071/rd9940093.

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It is archaic to view male factor infertility today separately from in vitro fertilization (IVF) and treatment of the female partner. Oligoasthenozoospermia may be an inherited condition (most likely on the Y chromosome), and is refractory to any treatment of the male including hormones and varicocelectomy. IVF technology is the only justifiable approach for achieving a pregnancy in these couples. The reasons for this view and the suggested modern approach to couples with oligoasthenozoospermia are outlined in this review. However, obstructive azoospermia is different as it can be successfully corrected with microsurgery in over 90% of men. When it cannot be corrected, as in congenital absence of vas, microsurgical sperm retrieval combined with IVF can still be highly effective in producing pregnancy with sperm from the husband. The most important arena for research into male infertility in the next decade will be to map out the deletions on the Y chromosome that might result in defective spermatogenesis, and which probably cause most cases of non-obstructive male factor infertility.

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Kulchenko, N. G. « Mast cell population in the testicle during pathospermia ». Russian Medical Inquiry 6, n^o 4 (2022) : 195–99. http://dx.doi.org/10.32364/2587-6821-2022-6-4-195-199.

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Nowadays, male and female infertility factors can cause infertile marriage with the same frequency. It is known that the causes of male infertility can be varicocele, genetic disorders, endocrine diseases, congenital pathologies, injuries and inflammatory diseases. Despite a sufficient set of diagnostic techniques, the form of male infertility remains unidentified (idiopathic) in 1/3 of men. At present, the role of mast cells (MC) in the development of chronic pelvic pain syndrome, chronic prostatitis, and chronic epididymitis are shown. However, the role of MC in the formation of male infertility still remains open. The article presents a clinical case of a male patient with primary infertility and non-obstructive azoospermia, who underwent a testicular biopsy to identify the causes of infertility. Morphological examination of the biopsy specimen revealed the MC population in the testicular interstitium. This particular finding allows to explain the presence of fibrosis in the connective tissue and the epithelium of convoluted seminiferous tubules in this patient. The revealed testicular fibrosis led to a permeability disorder of the blood-testis barrier and a spermatogenic epithelial cell death, resulted in the development of azoospermia in the particular male patient KEYWORDS: male infertility, pathospermia, spermatogenesis disorders, mast cells, fibrosis, azoospermia. FOR CITATION: Kulchenko N.G. Mast cell population in the testicle during pathospermia. Russian Medical Inquiry. 2022;6(4):195–199 (in Russ.). DOI: 10.32364/2587-6821-2022-6-4-195-199.

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Yıkılmaz, Taha Numan, Erdem Öztürk, Nurullah Hamidi, İsmail Selvi, Halil Başar et Levent Peşkircioğlu. « Evaluation of sexual dysfunction prevalence in infertile men with non-obstructive azoospermia ». Archivio Italiano di Urologia e Andrologia 91, n^o 4 (14 janvier 2020) : 241–44. http://dx.doi.org/10.4081/aiua.2019.4.241.

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Objectives: To determine the prevalence of sexual dysfunction in male partners of infertile couples and evaluate the effect of childlessness on erectile dysfunction (ED) and sexual relationship stress. Materials and methods: We collected datas of couples who attended our clinics for infertility between 2009 and 2016. Erectile dysfunction was investigated with the Questionnaires of International Index of Erectile Function-15 (IIEF-15) whereas premature ejaculation (PE) status with the Premature Ejaculation Diagnostic Tool (PEDT). The stress status of the childlessness in terms of sexual intercourse was scored by the Visual analogue scale (VAS) questionnaire. These scores were measured before and after a successful assisted reproductive treatment with the birth of the child. Results: The median age of the 193 male patients was 31 years (range 23-48). Erectile dysfunction was found in 68 (35.2%) and PE in 42 (21.7%) subjects. One hundred and forty-one couples were treated with assisted reproductive treatments. Forty eight couples had successful pregnancy. The IIEF-15 test was repeated after the birth of the child to the male partners of these couples. We observed that the IIEF-15 scores increased from 16 to 21 (p = 0.014). However there were no significant improvement on their ejaculation status (p > 0.05). The mean VAS scores of male partners was 5.2 (3-10) in the treatment period while it decreased to 4.1 (0-8) after the birth of the chils (p = 0.02). Statistically analysis showed a correlation between VAS and infertility as did IIEF-15. Conclusions: We observed that having children has a reducing effect on sexual relationship stress. Infertility is absolutely blamed on the women and men. This condition may have negative effects on male sexual performance and it is closely related with some emerging female sexual disorders. It should be taken into consideration that infertile couples may have sexual dysfunction.

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Ruvolo, G., M. Manno, E. Cefalu, R. Ciriminna et E. Cittadini. « R-072. Treatment by ICSI of male infertility caused by obstructive and non-obstructive azoospermia ». Human Reproduction 12, Suppl_2 (juin 1997) : 267–68. http://dx.doi.org/10.1093/humrep/12.suppl_2.267-a.

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Jashnani, Kusum, Rupesh Gundawar, Vikas Kavishwar et Vivek Parameshwar. « Fine-Needle Aspiration Cytology of the Testes for the Classification of Azoospermia and Its Value in the Assessment of Male Infertility ». Acta Cytologica 64, n^o 3 (24 septembre 2019) : 216–23. http://dx.doi.org/10.1159/000502790.

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Background: Infertility is an ever-increasing problem in today’s world. It can be due to male or female causes. Azoospermia seen in 5–10% of infertile men is due to obstructive or non-obstructive causes. Traditionally, testicular biopsy is the gold standard for evaluation. Fine-needle aspiration (FNA), however, is minimally invasive, provides qualitative and quantitative information about spermatogenesis, and can aid in assisted reproductive techniques making it a novel technique for the evaluation of male infertility. Objective: We aimed to classify different causes of azoospermia into different patterns based upon FNA, and assess the utility of cell indices in classifying cases into different patterns. Method: We conducted a prospective and a retrospective study of 42 azoospermic males, confirmed on semen analysis, over a period of 5 years. Patients were subjected to FNA of the testes. Smears were prepared, air-dried, wet-fixed, and then stained with May-Grünwald Giemsa and Papanicolaou stains, respectively. Cells were identified using predetermined morphologic criteria, and various indices were calculated followed by statistical analysis of the observations. Results: The mean age of 40 patients who satisfied the adequacy criteria was 32.75 years (range 22–48 years). Thirty-four patients had primary infertility and 6 had secondary infertility. Of these, 12 had normal spermatogenesis, 8 had hypo-spermatogenesis, 3 had early and 7 had late maturation arrest, 6 had Sertoli cell-only syndrome (SCOS), and there were different results in each testicle in 4 cases. The Sperm Index (SI) was significantly higher in all cases of normal spermatogenesis than in any of the hypo-spermatogenesis cases (p = 0.009). The Sertoli Index (SEI) in cases of hypo-spermatogenesis and maturation arrest was significantly higher than in cases of normal spermatogenesis (p < 0.001). The Sperm-Sertoli Index (SSI) also showed significant differences between cases of hypo-spermatogenesis and normal spermatogenesis (p < 0.001). These indices were useful in categorising patients with azoospermia. Conclusion: FNA helps to easily and accurately identify all types of testicular cells without biopsy. SI, SEI, and SSI are powerful cell indices for assessing the extent of spermatogenesis and classifying various causes of azoospermia. Bilateral sampling and multiple aspirations give a better mapping of spermatogenesis within the testes. Testicular FNA can thus play a very important role in the evaluation of male infertility.

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Al-Ibraheemi, Aya, Noureddine Louanjli, Mohamed Zarqaoui, Mohamed Ennaji, Wassym R. Senhaji, Ritu S. Santwani, Nisrine En-Naciri, Hafida Tarik, Romaissa Boutiche et Mustafa Zakaria. « Cryopreservation Benefits in Cryptozoospermia, Severe Oligozoospermia and Non-Obstructive Azoospermia in Male Infertility ». OALib 08, n^o 02 (2021) : 1–9. http://dx.doi.org/10.4236/oalib.1107190.

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Tamadon, A., M. B. Askarov, U. Zhanbyrbekuly, R. A. Zhankina, D. T. Saipiyeva, A. K. Ibragimov, B. E. Kadirova, A. Yessenuly, R. S. Sherkhanov et M. A. Suleiman. « Adipose Derived Mesenchymal Stem Cells Restore Spermatogenesis in Male non Obstructive Azoospermia (Literature Review) ». Biomedical Chemistry : Research and Methods 4, n^o 1 (janvier 2021) : e00141. http://dx.doi.org/10.18097/bmcrm00141.

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Stem cells are considered as new much promising therapeutic agents in treatment of male infertility due to their high differentiation potential and unlimited supply. In this review we summarized current views on application of mesenchymal stem cells in reproductive medicine.

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Lopes, Roberto Iglesias, Mabel Tatty de Medeiros, Marco Antônio Arap, Marcello Cocuzza, Miguel Srougi et Jorge Hallak. « Splenogonadal fusion and testicular cancer : case report and review of the literature ». Einstein (São Paulo) 10, n^o 1 (mars 2012) : 92–95. http://dx.doi.org/10.1590/s1679-45082012000100019.

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A 36 year-old man after tests for assessing male infertility was diagnosed with primary infertility, bilateral cryptorchidism, non-obstructive azoospermia and discontinuous splenogonadal fusion. Carcinoma in situ was found in his left testicle, which was intra-abdominal and associated with splenogonadal fusion. To our knowledge, this is the fourth case of splenogonadal fusion associated with testicular cancer reported. One should always bear in mind the possibility of this association for the left cryptorchid testicle.

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Nguyen, Thuy Duong, Thi Khanh Ly Nguyen et Thi Thu Ha Duong. « Association of CFAP65 rs56411706 with male infertility in 393 Vietnamese individuals ». Ministry of Science and Technology, Vietnam 64, n^o 2 (15 juin 2022) : 65–68. http://dx.doi.org/10.31276/vjste.64(2).65-68.

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Approximately two thousand genes have been found to be involved in spermatogenesis and their mutations have been reportedly associated with male infertility. Recent studies have shown that CFAP65 was crucial for spermatogenesis, and several mutations in this gene could result in male infertility. However, the association of polymorphisms in CFAP65 with male infertility remains unknown. In this study, the relationship between CFAP65 rs56411706 and male infertility was assessed in a Vietnamese population by 171 male infertility patients who had been diagnosed with non-obstructive azoospermia (NOA), oligozoospermia, or asthenozoospermia while 222 healthy controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Statistical analysis demonstrated that the allele frequencies of CFAP65 rs56411706 followed Hardy-Weinberg equilibrium (HWE) (p>0.05). The Chi-square test revealed no correlation between the polymorphism and male infertility in this study (p>0.05). This is the first study on the association between a single nucleotide polymorphism in the CFAP65 gene and male infertility in a Vietnamese population. The results of this study would help enrich the knowledge about the effects of CFAP65 polymorphisms on male infertility in the Vietnamese population.

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Azizi, Hossein, Danial Hashemi Karoii et Thomas Skutella. « Whole Exome Sequencing and In Silico Analysis of Human Sertoli in Patients with Non-Obstructive Azoospermia ». International Journal of Molecular Sciences 23, n^o 20 (20 octobre 2022) : 12570. http://dx.doi.org/10.3390/ijms232012570.

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Non-obstructive azoospermia (NOA) is a serious cause of male infertility. The Sertoli cell responds to androgens and takes on roles supporting spermatogenesis, which may cause infertility. This work aims to enhance the genetic diagnosis of NOA via the discovery of new and hub genes implicated in human NOA and to better assess the odds of successful sperm extraction according to the individual’s genotype. Whole exome sequencing (WES) was done on three NOA patients to find key genes involved in NOA. We evaluated genome-wide transcripts (about 50,000 transcripts) by microarray between the Sertoli of non-obstructive azoospermia and normal cells. The microarray analysis of three human cases with different non-obstructive azoospermia revealed that 32 genes were upregulated, and the expressions of 113 genes were downregulated versus the normal case. For this purpose, Enrich Shiny GO, STRING, and Cytoscape online evaluations were applied to predict the functional and molecular interactions of proteins and then recognize the master pathways. The functional enrichment analysis demonstrated that the biological process (BP) terms “inositol lipid-mediated signaling”, “positive regulation of transcription by RNA polymerase II”, and “positive regulation of DNA-templated transcription” significantly changed in upregulated differentially expressed genes (DEGs). The BP investigation of downregulated DEGs highlighted “mitotic cytokinesis”, “regulation of protein-containing complex assembly”, “cytoskeleton-dependent cytokinesis”, and the “peptide metabolic process”. Overrepresented molecular function (MF) terms in upregulated DEGs included “ubiquitin-specific protease binding”, “protease binding”, “phosphatidylinositol trisphosphate phosphatase activity”, and “clathrin light chain binding”. Interestingly, the MF analysis of the downregulated DEGs revealed overexpression in “ATPase inhibitor activity”, “glutathione transferase activity”, and “ATPase regulator activity”. Our findings suggest that these genes and their interacting hub proteins could help determine the pathophysiologies of germ cell abnormalities and infertility.

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Ali, Abdul-Rahim A., Omar F. Abdul-Rasheed et Ula M. Al-Kawaz. « The Impact of Luteinizing Hormone/Chorionic Gonadotropin Hormone Receptor Gene Polymorphism rs68073206 in Men with Non-obstructive Azoospermia : A Case-control Study ». Open Access Macedonian Journal of Medical Sciences 9, A (25 septembre 2021) : 894–900. http://dx.doi.org/10.3889/oamjms.2021.6821.

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Background: The functional consequences of the luteinizing hormone/chorionic gonadotropin hormone receptor (LHCGR) gene single nucleotide polymorphism (rs68073206) on male infertility in patients with non-obstructive azoospermia (NOA) is not clear. Objective: To examine whether the presence of LHCGR gene; rs68073206 single nucleotide polymorphisms (SNPs) can be associated with incidence of non-obstructive azoospermia. Materials and methods: A case-control study comprised of a total of 70 unrelated Iraqi infertile men with non-obstructive azoospermia (zero sperm in semen) whose were on two groups: Group I that were diagnosed to have NOA but didn’t receive infertility treatment yet (33 patient with age of 31.58±1.059 year) and group II that were receiving injectable gonadotropin treatment (37 patient with age of 33.46±1.173 year). In addition to 34 age and BMI matched healthy fertile normozoospermic men (according to the parameters of WHO, 2010). The study population was genotyped by TaqMan assay for LHCGR gene single nucleotide polymorphism (rs68073206). The level of each hormone was estimated by immunoassay technique while the sperm analyses were conducted in accordance with the World Health Organization criteria. Results: The study revealed a statistically significant higher hormonal level of serum inhibin B in infertile group I patients with wild GG genotype (246.445±224.106 pg/ml), and the p-value is (0.0439) as compared to that hormone levels of GT and TT genotypes carriers that were (85.969±71.685 pg/ml) and (56.420±23.988 pg/ml) respectively. ). The genotyping variations of patients, whether carrying the homozygous GG, heterozygous GT or homozygous TT genotype, did not reveal a statistically significant difference in distribution as compared to control individuals. Conclusions: The LHCGR gene rs68073206 polymorphisms in our population having non-obstructive azoospermia can be suggested to have a modulating potential in variable gonadotropin sensitivity. The detected non-significant difference in genotypic prevalence can be attributable to the limited sample size.

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Xie, Chong, Xiangfeng Chen, Yulin Liu, Zhengmu Wu et Ping Ping. « Multicenter study of genetic abnormalities associated with severe oligospermia and non-obstructive azoospermia ». Journal of International Medical Research 46, n^o 1 (21 juillet 2017) : 107–14. http://dx.doi.org/10.1177/0300060517718771.

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Objective * Chong Xie, Xiangfeng Chen, and Yulin Liu contributed equally to this work. Genetic defects are identified in nearly 20% of infertile males. Determining the frequency and types of major genetic abnormalities in severe male infertility helps inform appropriate genetic counseling before assisted reproductive techniques. Methods Cytogenetic results of 912 patients with non-obstructive azoospermia (NOA) and severe oligozoospermia (SOS) in Eastern China were reviewed in this multicenter study from January 2011 to December 2015. Controls were 215 normozoospermic men with offspring. Results Among all patients, 22.6% (206/912) had genetic abnormalities, including 27.3% (146/534) of NOA patients and 15.9% (60/378) of SOS patients. Chromosomal abnormalities (all autosomal) were detected in only 1.9% (4 /215) of controls. In NOA patients, sex chromosomal abnormalities were identified in 25.8% (138/534), of which 8% (43/534) had a 47,XXY karyotype or its mosaic; higher than the SOS group prevalence (1.1%; 4/378). The incidence of Y chromosome microdeletions was lower in the SOS group (13.2%; 50/378) than in the NOA group (17.8%; 95/534). Conclusions The high prevalence of genetic abnormalities in our study indicates the importance of routine genetic testing in severe male infertility diagnosis. This may help determine the choice of assisted reproductive technique and allow specific pre-implantation genetic testing to minimize the risk of transmitting genetic defects.

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Duong, Huy Quang, Van Kim Hoang Tang, Georgios Liperis et Le Dang Khoa. « Orchidopexy Results in the Recovery of Sperm in the Ejaculate of a Non-obstructive Azoospermic Adult with Bilateral Cryptorchidism — A Case Report ». Fertility & ; Reproduction 01, n^o 01 (mars 2019) : 35–38. http://dx.doi.org/10.1142/s2661318219500014.

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Cryptorchidism or undescended testis is one of the most common pediatric disorders of the male endocrine glands and the most typical congenital abnormality identified at birth. Bilateral cryptorchidism is frequently associated with azoospermia and male infertility. The standard therapy is the surgical repositioning of the testes (orchidopexy) within the scrotal sac after the age of six months to eighteen months. Current findings suggest that no sperm is recovered in the ejaculate, for patients with bilateral cryptorchidism, when the mean age at the time of orchidopexy is around 16 years and above. Here we report an unusual case of an adult patient with bilateral cryptorchidism and non-obstructive azoospermia for which orchidopexy resulted in the recovery of sperm in the ejaculate, improving his options for future fertility treatment.

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Borkhataria, Bhavna, Jaydev Dhameliya, Devisha Mavani et Juhi Dhameliya. « Effects of tobacco chewing habits on male infertility ». International Journal of Research in Medical Sciences 8, n^o 7 (26 juin 2020) : 2589. http://dx.doi.org/10.18203/2320-6012.ijrms20202900.

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Background: It is the fact that, India consists of world’s largest tobacco chewer population, more prevalent in low income group. The effects of tobacco chewing on semen parameters have been widely studied. The study aim is to analyze the semen analysis parameters (oligozoospermia, asthenozoospermia, teratozoospermia, oligo-astheno-teratozoospermia -OATS and azoospermia) of tobacco chewer and non chewer infertile patients.Methods: A retrospective analysis of 639 patients was done out of which 150 were non-chewers and 489 were tobacco chewers. The percentage of population with particular semen abnormalities were compared between the two groups. The same comparison was performed between tobacco chewing primary infertility and secondary infertility patients in order to specifically assess the effect of tobacco chewing in sub-fertile patients.Results: OATS and azoospermia cases were significantly higher in the tobacco chewing infertile patients as compared to oligozoospermia, asthenozoospermia and teratozoospermia cases. In case of sub-fertile patients also, the percentage of OATS and azoospermia were significantly higher.Conclusions: This finding suggest that tobacco chewing greatly affects every parameter of sperm i.e. concentration, motility and morphology collectively. Moreover, tobacco chewing may be less affecting the male fertility initially but prolonged exposures affects detrimentally resulting in serious semen parameter abnormalities such as OATS and even azoospermia. And such cases are difficult to treat even with higher and advanced infertility treatment options like ICSI, microfludics, etc. This reduces the chances of IVF success as well as increases the financial burden on the patients undergoing infertility treatment. Thus, infertility clinics must employ awareness programs for such patients to explain them the effects of tobacco chewing habit and reducing it can definitely enhance the treatment outcomes.

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Uysal, Fatma, Gokhan Akkoyunlu et Saffet Ozturk. « Decreased expression of DNA methyltransferases in the testes of patients with non-obstructive azoospermia leads to changes in global DNA methylation levels ». Reproduction, Fertility and Development 31, n^o 8 (2019) : 1386. http://dx.doi.org/10.1071/rd18246.

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DNA methylation plays key roles in epigenetic regulation during mammalian spermatogenesis. DNA methyltransferases (DNMTs) function in de novo and maintenance methylation processes by adding a methyl group to the fifth carbon atom of the cytosine residues within cytosine–phosphate–guanine (CpG) and non-CpG dinucleotide sites. Azoospermia is one of the main causes of male infertility, and is classified as obstructive (OA) or non-obstructive (NOA) azoospermia based on histopathological characteristics. The molecular background of NOA is still largely unknown. DNA methylation performed by DNMTs is implicated in the transcriptional regulation of spermatogenesis-related genes. The aim of the present study was to evaluate the cellular localisation and expression levels of the DNMT1, DNMT3A and DNMT3B proteins, as well as global DNA methylation profiles in testicular biopsy samples obtained from men with various types of NOA, including hypospermatogenesis (hyposperm), round spermatid (RS) arrest, spermatocyte (SC) arrest and Sertoli cell-only (SCO) syndrome. In the testicular biopsy samples, DNMT1 expression and global DNA methylation levels decreased gradually from the hyposperm to SCO groups (P<0.05). DNMT3A expression was significantly decreased in the RS arrest, SC arrest and SCO groups compared with the hyposperm group (P<0.05). DNMT3B expression was significantly lower in the RS arrest and SCO groups than in the hyposperm group (P<0.05). Although both DNMT1 and DNMT3A were localised in the cytoplasm and nucleus of the spermatogenic cells, staining for DNMT3B was more intensive in the nucleus of spermatogenic cells. In conclusion, the findings suggest that significant changes in DNMT expression and global DNA methylation levels in spermatogenic cells may contribute to development of male infertility in the NOA groups. Further studies are needed to determine the molecular biological effects of the altered DNMT expression and DNA methylation levels on development of male infertility.

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Takihara, Hiroshi. « The treatment of obstructive azoospermia in male infertility—past, present, and future ». Urology 51, n^o 5 (mai 1998) : 150–55. http://dx.doi.org/10.1016/s0090-4295(98)00089-2.

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Jockenhövel, Friedrich, Shafiq A. Khan et Eberhard Nieschlag. « Diagnostic value of bioactive FSH in male infertility ». Acta Endocrinologica 121, n^o 6 (décembre 1989) : 802–10. http://dx.doi.org/10.1530/acta.0.1210802.

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Abstract. Bioactive FSH and immunoreactive FSH were determined in 193 infertile men and in 23 men with proven fertility using the Sertoli cell aromatase bioassay for bioactive FSH measurement and a two-site fluoroimmunoassay for immunoreactive FSH measurement. Overall bioactive and immunoreactive FSH levels correlated well (r = 0.74, p < 0.001) but were significantly different from fertile men (bioactive FSH: 6.2 ± 0.3 U/l; immunoreactive FSH: 4.1 ± 0.4 U/l) in patients with Klinefelter's syndrome (24.1 ± 6.1; 26.9 ± 3.0), non-obstructive azoospermia (25.1 ± 4.3; 22.2 ± 4.0), maldescended testes (12.5 ± 4.6; 14.6 ± 1.6), and patients with severe oligozoospermia (11.9 ± 1.2; 11.2 ± 1.0). Infertile men with moderate oligozoospermia (8.9 ± 1.5; 8.0 ± 1.1) and normal sperm counts (9.6 ± 1.1; 7.6 ± 1.0) had insignificantly elevated bioactive FSH and immunoreactive FSH levels. Bioactive to immunoreactive FSH ratios were significantly reduced in all patient groups except for patients with normal sperm counts when compared with fertile men. A considerable number of patients exhibited elevated immunoreactive FSH concomitant with normal bioactive FSH levels. We conclude that 1. determination of immunoreactive FSH suffices for classification of patients; 2. bioactive to immunoreactive FSH ratios are reduced in infertile men; 3. some men might secrete immunoreactive FSH with reduced bioactivity.

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Piryaei, Fahimeh, Hossein Mozdarani, Mohammad Ali Sadighi Gilani et Mansour Ebrahimi. « Homo Sapiens (Human) microRNA 187 Expression Is Dysregulated in Testis of Non-obstructive Azoospermic Men ». International Journal of Basic Science in Medicine 5, n^o 2 (30 juin 2020) : 39–42. http://dx.doi.org/10.34172/ijbsm.2020.08.

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Introduction: MiRNA expression alterations are closely related to growth, proliferation, and cell development. In addition, miR-187 has been found to regulate cellular proliferation. Further, spermatogenesis is a highly complicated process which is regulated through several genes targeted by miRNAs. However, no study has completely addressed the etiology of spermatogenic impairments. Accordingly, the present study examined the expression pattern of Homo sapiens (human) microRNA (hsa-mir-187) in the testicular biopsies of infertile men with non-obstructive azoospermia (NOA) and Sertoli cell-only syndrome (SCOS) subtype in comparison with those with obstructive azoospermia (OA). Methods: Quantitative reverse‐transcription polymerase chain reaction analysis was performed to assess the expression level of hsa-mir-187 using the ΔΔCt method. Results: Our data indicated that hsa-mir-187 was significantly up-regulated in the testis of the SCOS group (P˂ 0.05) in comparison with the OA group. Conclusion: In general, the findings suggest that the differential expression of hsa-mir-187 is linked with male infertility and shed more light on molecular defects that underlie spermatogenic impairments.

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Al-Dujaily, Saad S., Hazim I. Al-Ahmed, Jasim Al-Ethawi et Haidar A. Al-Ebrahimi. « Effect of Fertility Blend® Administration on the Epididymal Sperm Function Parameters of Vasectomized Mice : Physiological and Genetical Study as Model for Obstructive Azoospermic Men ». Journal of Biotechnology Research Center 12, n^o 1 (1 janvier 2018) : 132–36. http://dx.doi.org/10.24126/jobrc.2018.12.1.558.

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Male Fertility Blend® is a new nutrient supplements containing many constituents especially a plant called Dong quai(Angelia Sinensis). The plant extract has been used to facilitate the sperm function parameters. However, the studies concern on its effects on epididymal sperms of vasectomized males and obstructive azoospermia are very rare. Thus, this investigation was designed to elucidate the role of Male Fertility Blend® (MFB) formula on the in vivo epididymal sperm characters and DNA fragmentations of vasectomized male mice as a model for man. In this study, the orally administration of 3.4 µg/ml MFB was used for vasectomized and non-vasectomized mice along 35 days. The results revealed a significant (p≤0.05) increment in certain sperm function parameters of vasectomized mice by using fertility Blend® than that of not treated by this supplement. The percentage of progressive and unprogressive active sperm motility using MFB was significantly (P≤0.05) increased compared with non-treated group. It was concluded that the MFB formula containing different sources of energy and variety of factors that sustain the epididymal sperm of healthy and vasectomized mice. Therefore this supplement can be utilized for males complaining from obstructive azoospermia and other factors of infertility.

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Hong, Tae-Kyung, Jae-Hoon Song, So-Been Lee et Jeong-Tae Do. « Germ Cell Derivation from Pluripotent Stem Cells for Understanding In Vitro Gametogenesis ». Cells 10, n^o 8 (26 juillet 2021) : 1889. http://dx.doi.org/10.3390/cells10081889.

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Assisted reproductive technologies (ARTs) have developed considerably in recent years; however, they cannot rectify germ cell aplasia, such as non-obstructive azoospermia (NOA) and oocyte maturation failure syndrome. In vitro gametogenesis is a promising technology to overcome infertility, particularly germ cell aplasia. Early germ cells, such as primordial germ cells, can be relatively easily derived from pluripotent stem cells (PSCs); however, further progression to post-meiotic germ cells usually requires a gonadal niche and signals from gonadal somatic cells. Here, we review the recent advances in in vitro male and female germ cell derivation from PSCs and discuss how this technique is used to understand the biological mechanism of gamete development and gain insight into its application in infertility.

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Stojanovic, Sanja, Mira Govorcin, Dusan Hadnadjev, Goran Marusic, Slavica Senicar et Olivera Nikolic. « The value of ultrasound in diagnosis of male infertility ». Medical review 57, n^o 11-12 (2004) : 551–55. http://dx.doi.org/10.2298/mpns0412551s.

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Introduction The number of male patients with clinical presentation of infertility, especially secondary infertility after infections, is increasing every day. Contemporary urological standards in defining male infertility include ultrasound examination. Ultrasound examination of the scrotum using color doppler is of great importance. Diagnosis of male infertility Testicular atrophy, microlithiasis and varicocele are the most common causes of male infertility. Microlithiasis and classical testicular microlithiasis are not directly associated with infertility. Gray scale sonography is used in evaluation of the dilatation of the testicular veins, but color Doppler made a real contribution in revealing subclinical varicocele. Transrectal ultrasound is used in a number of pathological conditions of prostate, seminal vesicles and ducts. In cases of obstructive azoospermia it is important to find out the cause, such as focal prostatitis, cysts, ejaculatory ducts obstruction or absence of vas deferens. Conclusion UIltrasound is a noninvasive method easy to perform, which provides information without postexamination consequences such as strictures or obstructions, which are possible after invasive deferentography. Ultrasound guided biopsy, provides a new minimally invasive diagnostic tool in current urology.

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Uysal, Fatma, Gokhan Akkoyunlu et Saffet Ozturk. « Corrigendum to : Decreased expression of DNA methyltransferases in the testes of patients with non-obstructive azoospermia leads to changes in global DNA methylation levels ». Reproduction, Fertility and Development 31, n^o 8 (2019) : 1424. http://dx.doi.org/10.1071/rd18246_co.

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DNA methylation plays key roles in epigenetic regulation during mammalian spermatogenesis. DNA methyltransferases (DNMTs) function in de novo and maintenance methylation processes by adding a methyl group to the fifth carbon atom of the cytosine residues within cytosine–phosphate–guanine (CpG) and non-CpG dinucleotide sites. Azoospermia is one of the main causes of male infertility, and is classified as obstructive (OA) or non-obstructive (NOA) azoospermia based on histopathological characteristics. The molecular background of NOA is still largely unknown. DNA methylation performed by DNMTs is implicated in the transcriptional regulation of spermatogenesis-related genes. The aim of the present study was to evaluate the cellular localisation and expression levels of the DNMT1, DNMT3A and DNMT3B proteins, as well as global DNA methylation profiles in testicular biopsy samples obtained from men with various types of NOA, including hypospermatogenesis (hyposperm), round spermatid (RS) arrest, spermatocyte (SC) arrest and Sertoli cell-only (SCO) syndrome. In the testicular biopsy samples, DNMT1 expression and global DNA methylation levels decreased gradually from the hyposperm to SCO groups (PPP

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Girardi, Sarah K., et Peter N. Schlegel. « Techniques for sperm recovery in assisted reproduction ». Reproductive Medicine Review 7, n^o 2 (juillet 1999) : 131–39. http://dx.doi.org/10.1017/s0962279999000253.

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During the past decade, few fields in medicine have changed as dramatically as reproductive medicine and the treatment of male infertility. Whereas previously only men with obstructive azoospermia were candidates for treatment, either through surgical reconstruction or sperm aspiration, now even men with nonobstructive azoospermia are able to achieve pregnancies without having to resort to donor sperm. The extraordinary success of assisted reproduction after sperm retrieval for azoospermic men is the result of three important discoveries. First is the clinical observation that epididymal transit of sperm is not required for successful fertilization. Second is the recognition that significant heterogeneity in testicular biopsy specimens exists. Lastly is the advent of intracytoplasmic sperm injection (ICSI), which has enabled fertilization regardless of the degree of sperm impairment or retrieval source as long as sperm are viable. These three discoveries have enabled fertilizations and pregnancies for men previously referred for donor insemination or adoption, and have therefore broadened the indications for sperm retrieval. This review is intended to describe in detail the available techniques for the recovery of sperm, with emphasis on the latest technique, testicular microdissection for sperm retrieval in nonobstructive azoospermia.

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Flannigan, Ryan Kendrick, Victor Chow, Sai Ma et Albert Yuzpe. « 45,X/46,XY mixed gonadal dysgenesis : A case of successful sperm extraction ». Canadian Urological Association Journal 8, n^o 1-2 (12 février 2014) : 108. http://dx.doi.org/10.5489/cuaj.1574.

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Infertility is common among couples, about one third of cases are the result of solely male factors, and rarely abnormalities of genetic karyotypes are the root cause. Individuals with a 45X,/46,XY mosaiscism are rare in the literature and very few have fertile potential. We discuss a case of a 27-year-old male with known mixed gonadal dysgenesis, 50:50 split mosaiscism of 45,X/46,XY, presenting for evaluation of 1.5 year history of infertility. He demonstrated low volume non-obstructive azoospermia. Upon testicular biopsy, spermatozoa were extracted. These sperm were subjected to aneuploidy studies demonstrating 95.95% euploidy. The sperm were further assessed and placed in cryopreservation after being deemed sufficient for potential intracytoplasmic sperm injection. This is a unique case of viable sperm in a man with mixed gonadal dysgenesis, 45,X/46,XY mosaiscism.

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Minh Duc, Bui, Luong Thi Lan Anh, Nong Van Hai et Nguyen Thuy Duong. « Association study of NR5A1 rs1110061 with infertile male in 401 Vietnamese individuals ». Vietnam Journal of Biotechnology 19, n^o 4 (3 mai 2022) : 625–31. http://dx.doi.org/10.15625/1811-4989/16358.

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Male infertility is a reproductive issue involving defects in the quantity and quality of sperm. Besides the exogenous elements such as harmful habits, pollution, genetic factors including disorders in a single gene, group of genes, or chromosomes, are the etiology causing infertility in men. NR5A1 is well-known as a candidate gene involved in male infertility, including 46, XY disorders of sex development (DSD), cryptorchidism, micropenis, spermatogenic failure, non-obstructive azoospermia, and oligozoospermia. This study aimed to identify the single nucleotide polymorphism (SNP) associated with male infertility in the NR5A1 gene in a Vietnamese cohort of 202 infertile men and 199 healthy controls. By directly sequencing the coding region of the NR5A1 gene in 56 cases and 21 controls, only one missense mutation c.437G>C (p.Gly146Ala; rs1110061) in exon 4 was found. The variant was detected in 34 patients, of which 27 were heterozygous (GC) and 7 were homozygous (CC). In the control group, 15 individuals carried this mutation, including 10 with heterozygous (GC) and 5 with homozygous (CC). To further investigate the association of the polymorphism NR5A1 rs11100061 with male infertility disease, we performed PCR-RFLP in 202 infertile and 199 healthy men to assess the genotypes and alleles. The results indicated that the distribution of the genotypes of the polymorphism was in accordance with Hardy-Weinberg equilibrium (p-values > 0.05). However, no association was detected between the polymorphism and male infertility (p-values > 0.05).

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Gamidov, S. I., T. V. Shatylko, A. Kh Tambiev, A. O. Tokareva, V. V. Chagovets, T. B. Bitsoev, N. L. Starodubtseva, A. Yu Popova et V. E. Frankevich. « Lipidomic profile of seminal plasma in non-obstructive azoospermia with sperm maturation arrest ». Vestnik Urologii 9, n^o 4 (24 décembre 2021) : 30–39. http://dx.doi.org/10.21886/2308-6424-2021-9-4-30-39.

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Introduction. The difference between obstructive and non-obstructive azoospermia with sperm maturation arrest is important for the choice of treatment tactics and adequate counseling of a married couple.Purpose of the study. The study aimed to assess the semen lipid profile in patients with sperm maturation arrest. Materials and methods. Samples of seminal plasma for lipid composition of 24 men with normozoospermia and 64 men with azoospermia were studied. Patients with azoospermia underwent microdissection testicular biopsy followed by the detection of testicular tissue pathology. Lipid extracts were analyzed by liquid chromatography with mass spectrometry. Lipid data were compared with the results of pathomorphological studies.Results. Comparison of two groups revealed a statistically significant concentration differences for 22 lipids detected in positive-ion mode and 11 lipids detected in negative-ion mode. Those lipids mainly belong to the classes hexosylceramides, sphingomyelins and phosphatidylcholines — simple ethers and oxidized lipids. In multivariate analysis, the following lipids were found to be statistically significant predictors of sperm maturation arrest: PC 16: 0_22: 6 lipid (β-coefficient: -0.73; 95% confidence interval (95% CI): -1.42 to -0.27; odds ratio (OR): 0.48; OR CI: 0.24 to 0.76; Wald's test: -2.58; p = 0.01), SM d20: 1/22:2 lipid (β-coefficient 4.96; 95% CI 2.29 to 9.13; OR: 142.31; OR CI: 9.90 to 9.22^103; Wald's test: 2.93; p = 0.003); PG 20:3_22: 6 lipid (β-coefficient 2.52; 95% CI 1.13 to 4.49; OR: 12.37; OR CI: 3.10 to 89.27; Wald's test: 3.02; p = 0.002); PC O- 16: 1/16:0 lipid (β-coefficient 1.96; 95% CI -4.12 to 0.27; OR: 0.14; OR CI: 0.02 to 0.76; Wald's test: -2.05; p = 0.04). The prediction model characteristics of sperm maturation arrest, obtained during cross-validation in the positiveion mode composed: sensitivity 91%, specificity 85%; in negative-ion mode: sensitivity 75%; specificity 81%.Conclusions. Even though early stages of spermatogenesis are equally preserved in both fertile men and men with homogeneous sperm maturation arrest, the semen in the studied group of patients differed in its lipid profile. Patients with non-obstructive azoospermia, associated with meiosis arrest, may have unique lipidomic characteristics of seminal plasma, which in the future will make it possible to differentiate various variants of severe male infertility using non-invasive methods.

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Minor, Agata, Victor Chow et Sai Ma. « Aberrant DNA methylation at imprinted genes in testicular sperm retrieved from men with obstructive azoospermia and undergoing vasectomy reversal ». REPRODUCTION 141, n^o 6 (juin 2011) : 749–57. http://dx.doi.org/10.1530/rep-11-0008.

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Male factor infertility has been associated with abnormal DNA methylation at imprinted genes. Little information is available on the status of imprinting in the sperm of men with azoospermia, including the association between aberrant imprinting and obstructive azoospermia (OA) or non-OA (NOA). Analysis of DNA methylation at imprinted genes in the sperm of men undergoing vasectomy reversal would aid determination of whether aberrant imprinting is associated with obstruction. Testicular sperm was retrieved from testicular biopsies obtained from men with azoospermia (N=18), including OA (N=10), NOA (N=5), and unknown pathology (N=3), and from men undergoing vasectomy reversal (N=17). Sperm was also obtained from proven fertile men (N=9). DNA methylation was investigated at multiple CpG sites within the differentially methylated regions (DMRs) of three imprinted genes,H19,IG-GTL2andMEST, using bisulphite sequencing. Unique clones representative of single cells were analyzed. We found a significant decrease in DNA methylation at theH19DMR in testicular sperm of azoospermic men compared with proven fertile men. The decrease was also significant between OA and proven fertile men, and between men undergoing vasectomy reversal and proven fertile men, suggesting that aberrant DNA methylation may be associated with obstruction. Changes in DNA methylation atIG-GTL2andMESTDMRs among groups were not significant. Our data suggest that imprinting abnormalities may be associated with obstruction and may occur in response to changes in testicular environment and not only spermatogenesis failure, as previously reported. Methylation at theH19DMR was particularly prone to modification in testicular sperm.

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Rogozin, D. S. « Male fertility : a review of the publications from April – June 2021 ». Vestnik Urologii 9, n^o 3 (5 octobre 2021) : 118–26. http://dx.doi.org/10.21886/2308-6424-2021-9-3-118-126.

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The article provides an overview of the most significant publications on the topic of male infertility. The main selection criteria were considered the practical significance of the article, as well as the impact factor of the journal in which it was published, according to the SCImago Journal Rank (SJR). As a result, a list of 10 works published in the II quarter (April – June) of 2021 was formed. The review includes articles on the following issues: the effectiveness of repeated micro-TESE in non-obstructive azoospermia, the role of COVID-19 in male fertility, the effect of testosterone therapy on spermatogenesis, testicular microlithiasis, electroejaculation as a method of obtaining spermatozoa, harm from carrying cell phones near the genitals, prediction of the effectiveness of intrauterine insemination, the effect of advanced paternal age on sperm aneuploidy, and the importance of the microbiome for male fertility.

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Rogozin, D. S. « Male fertility : a review of the publications from April – June 2021 ». Vestnik Urologii 9, n^o 3 (5 octobre 2021) : 118–26. http://dx.doi.org/10.21886/2308-6424-2021-9-3-118-126.

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The article provides an overview of the most significant publications on the topic of male infertility. The main selection criteria were considered the practical significance of the article, as well as the impact factor of the journal in which it was published, according to the SCImago Journal Rank (SJR). As a result, a list of 10 works published in the II quarter (April – June) of 2021 was formed. The review includes articles on the following issues: the effectiveness of repeated micro-TESE in non-obstructive azoospermia, the role of COVID-19 in male fertility, the effect of testosterone therapy on spermatogenesis, testicular microlithiasis, electroejaculation as a method of obtaining spermatozoa, harm from carrying cell phones near the genitals, prediction of the effectiveness of intrauterine insemination, the effect of advanced paternal age on sperm aneuploidy, and the importance of the microbiome for male fertility.

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Ali, Abdul-Rahim, Omar Abdul-Rasheed et Ula Alkawaz. « Follicle-stimulating hormone (FSH) receptor gene polymorphisms in Iraqi patients with non-obstructive azoospermia ». Baghdad Journal of Biochemistry and Applied Biological Sciences 2, n^o 04 (4 novembre 2021) : 187–202. http://dx.doi.org/10.47419/bjbabs.v2i04.76.

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Background: Follicle-stimulating hormone (FSH) is a pivotal hormone for male fertility, and its action on gonads is exerted by FSH receptors (FSHRs). Objectives: To examine whether the presence of FSHR gene single nucleotide polymorphisms (SNPs), G919A and A2039G, involved in non-obstructive azoospermia (NOA) in Iraqi infertile men. Methods: Two common SNPs, A919G and A2039G, in the FSHR gene were analyzed in 104 subjects (70 infertile patients with NOO: 33 NOA patients were not receiving treatment and 37 were on infertility treatment, and 34 normozoospermic fertile men as controls). Results: The results revealed that the homozygous wild genotype (AA) of rs6165 FSHR gene SNP was more abundant than (AG) and (GG) genotypes in both groups of infertile NOA patients with a frequency of 49% in those who untreated, 81% in patients undergoing treatment and in the control group 41%. Whereas, the highest percentage of heterozygous genotype (AG) in the fertile control group was 41% when compared to NOApatients with a genotype frequency of 24% (for those who untreated) and 11% (for patients on treatment), respectively; with (A) allele frequency of 86% and the observed frequency of (G) allele was only 14% in the patients’ group as compared to that of controls that were (65 %) and (35 %), respectively. The rs6166 genotyping revealed that the homozygous wild genotype (GG) of FSHR gene was more abundant than (AG) and (AA) genotypes in NOA patients receiving infertility treatment with a frequency of (68%), in NOA patients who didn’t receive treatment 49%, while the lowest frequency was detected in the healthy fertile control group (47%). Conclusions: These results support the evidence that rs6165 and rs6166, FSHR SNPs, might be involved in the pathogenesis and protection against NOA, respectively.

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Huu Dinh, Tran, Nguyen Xuan Canh, Dinh Huong Thao, Luong Thi Lan Anh, Bui Minh Duc et Nguyen Thuy Duong. « Association of AhRR rs2292596 with male infertility in 422 Vietnamese individuals ». Vietnam Journal of Biotechnology 18, n^o 4 (24 mai 2021) : 317–624. http://dx.doi.org/10.15625/1811-4989/18/4/16082.

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Male infertility is a reproductive disease in men caused by multiple factors ranging from harmful lifestyle habits to endogenous genetic elements. This study aimed to investigate the association between the polymorphism AhRR rs2292596 and male infertility. Total DNA was extracted from blood of 422 Vietnamese samples including 218 non-obstructive azoospermic and oligozoospermic patients and 204 healthy controls. The genotypes of the polymorphism were determined by PCR-RFLP method. The distribution of genotypes and their relationship with male infertility were analyzed by statistical methods. The results indicated that rs2292596 AhRR followed Hardy-Weinberg equilibrium (p-value > 0.05). However, there was association between the rs2292596 polymorphism and male infertility in the three models (additive, dominant, and recessive) (p-value > 0.05). The investigation would help enrich the knowledge about the influences of genetic factors on male infertility in the Vietnamese population.

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Potorac, Iulia, Marie Laterre, Olivier Malaise, Vlad Nechifor, Corinne Fasquelle, Orphal Colleye, Nancy Detrembleur et al. « The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency ». Journal of Clinical Medicine 12, n^o 3 (28 janvier 2023) : 990. http://dx.doi.org/10.3390/jcm12030990.

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Infertility in couples is a common problem, with both female and male factors contributing to similar extents. Severe, congenital disorders affecting fertility are, however, rare. While folliculogenesis and spermatogenesis are generally orchestrated via different mechanisms, some genetic anomalies can impair both female and male gametogenesis. Minichromosome maintenance complex component 9 (MCM9) is involved in DNA repair and mutations of the MCM9 gene have been previously reported in females with premature ovarian insufficiency (POI). MCM9 is also an emerging cancer risk gene. We performed next-generation and Sanger sequencing of fertility and related genes and hormonal and imaging studies in a kindred whose members had POI and disordered spermatogenesis. We identified a homozygous pathogenic MCM9 variant, c.394C>T (p.Arg132*) in three sisters affected by POI due to ovarian dysgenesis and their brother who had normal pubertal development but suffered from non-obstructive azoospermia. Testicular biopsy revealed Sertoli cell-only testicular histopathology. No evidence of early onset cancer was found in the homozygotic family members, but they were all young (<30 years) at the time of the study. In the male patient the homozygous MCM9 variant led to normal pubertal development and hormonal levels but caused a Sertoli-cell-only syndrome with non-obstructive azoospermia. In the homozygous females studied, the clinical, hormonal, and gonadal phenotypes revealed ovarian dysgenesis consistent with previous reports. Active screening for potential colorectal and other cancer risks in the homozygotic MCM9 subjects has been instigated.

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Batruch, Ihor, Christopher R. Smith, Brendan J. Mullen, Ethan Grober, Kirk C. Lo, Eleftherios P. Diamandis et Keith A. Jarvi. « Analysis of Seminal Plasma from Patients with Non-obstructive Azoospermia and Identification of Candidate Biomarkers of Male Infertility ». Journal of Proteome Research 11, n^o 3 (2 février 2012) : 1503–11. http://dx.doi.org/10.1021/pr200812p.

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Han, Fei, Xiao Jiang, Zhi-ming Li, Xuan Zhuang, Xi Zhang, Wei-ming Ouyang, Wen-bin Liu et al. « Epigenetic Inactivation of SOX30 Is Associated with Male Infertility and Offers a Therapy Target for Non-obstructive Azoospermia ». Molecular Therapy - Nucleic Acids 19 (mars 2020) : 72–83. http://dx.doi.org/10.1016/j.omtn.2019.10.038.

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Zhang, Zhi-Bo, Yu-Ting Jiang, Xin Yun, Xiao Yang, Rui-Xue Wang, Ru-Lin Dai et Rui-Zhi Liu. « Male infertility in Northeast China : a cytogenetic study of 135 patients with non-obstructive azoospermia and severe oligozoospermia ». Journal of Assisted Reproduction and Genetics 29, n^o 1 (17 novembre 2011) : 83–87. http://dx.doi.org/10.1007/s10815-011-9670-1.

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Mohammed, Mzyiene. « Bilateral absence of vas deferens (BAVD) a case report ». MOJ Clinical & ; Medical Case Reports 11, n^o 3 (2021) : 64–66. http://dx.doi.org/10.15406/mojcr.2021.11.00383.

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Mutations in transmembrane conductance of cystic fibrosis (CFTR) are found in men in couples followed for infertility and for which azoospermia associated with congenital bilateral absence of the deferential canal (CBAVD) were found in men. There is a frequent association between CFTR and CBAVD abnormalities. CBAVD exists in almost all men with cystic fibrosis and causes an obstructive azoospermia that cannot be treated surgically; this poses a diagnostic and therapeutic problem because its management remains complex. However, with the use of assisted reproductive techniques (ART), in particular the aspiration of testicular or epididymic sperm, the injection of intracytoplasmic sperm and in vitro fertilization, it is possible that men with CBAVD can produce offspring. We report the case of a 32-year-old patient who consulted for primary infertility evolving over the past 5 years (genetic advice was provided). The aim of this article is to show the diagnostic and therapeutic difficulties related to this particular form of male primary infertility. Recent assisted human reproduction techniques like Intracytoplasmic Sperm Injection (ICSI) or In Vitro Fertilization (FIV) offer very good results for couple consulting for infertility of man with CBAVD.

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Cerván-Martín, Miriam, Lara Bossini-Castillo, Rocío Rivera-Egea, Nicolás Garrido, Saturnino Luján, Gema Romeu, Samuel Santos-Ribeiro et al. « Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment ». Journal of Personalized Medicine 11, n^o 1 (29 décembre 2020) : 22. http://dx.doi.org/10.3390/jpm11010022.

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Infertility is a growing concern in developed societies. Two extreme phenotypes of male infertility are non-obstructive azoospermia (NOA) and severe oligospermia (SO), which are characterized by severe spermatogenic failure (SpF). We designed a genetic association study comprising 725 Iberian infertile men as a consequence of SpF and 1058 unaffected controls to evaluate whether five single-nucleotide polymorphisms (SNPs), previously associated with reduced fertility in Hutterites, are also involved in the genetic susceptibility to idiopathic SpF and specific clinical entities. A significant difference in the allele frequencies of USP8-rs7174015 was observed under the recessive model between the NOA group and both the control group (p = 0.0226, OR = 1.33) and the SO group (p = 0.0048, OR = 1.78). Other genetic associations for EPSTI1-rs12870438 and PSAT1-rs7867029 with SO and between TUSC1-rs10966811 and testicular sperm extraction (TESE) success in the context of NOA were observed. In silico analysis of functional annotations demonstrated cis-eQTL effects of such SNPs likely due to the modification of binding motif sites for relevant transcription factors of the spermatogenic process. The findings reported here shed light on the molecular mechanisms leading to severe phenotypes of idiopathic male infertility, and may help to better understand the contribution of the common genetic variation to the development of these conditions.

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