Review
Biochemistry & Molecular Biology
Rossella Cannarella, Andrea Crafa, Federica Barbagallo, Scott D. D. Lundy, Sandro La Vignera, Rosita A. A. Condorelli, Aldo E. E. Calogero
Summary: This systematic review and meta-analysis examine the differences in H19 gene methylation between patients with abnormal versus normal sperm parameters. The study also explores the impact of age and sperm concentration on H19 methylation using meta-regression analysis. The results indicate that H19 methylation levels are lower in infertile patients, particularly those with oligozoospermia or recurrent pregnancy loss, and are independent of age and sperm concentration.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Urology & Nephrology
Alberto Ferlin, Andrea Garolla, Marco Ghezzi, Riccardo Selice, Pierfrancesco Palego, Nicola Caretta, Antonella Di Mambro, Umberto Valente, Maurizio De Rocco Ponce, Savina Dipresa, Leonardo Sartori, Mario Plebani, Carlo Foresta
Summary: The study found that low sperm count is associated with low testosterone, poor metabolic parameters, and osteoporosis in men. This indicates that a man's semen count is a marker of his overall health.
EUROPEAN UROLOGY FOCUS
(2021)
Article
Endocrinology & Metabolism
Vincenza Precone, Rossella Cannarella, Stefano Paolacci, Gian Maria Busetto, Tommaso Beccari, Liborio Stuppia, Gerolamo Tonini, Alessandra Zulian, Giuseppe Marceddu, Aldo E. Calogero, Matteo Bertelli
Summary: This study utilized a next-generation sequencing gene panel to identify potential gene variants in idiopathic male infertile patients. The findings suggest that searching for pre-diagnostic genes may help in pinpointing the cause of idiopathic male infertility.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Giampiero Ferraguti, Francesca Fanfarillo, Luigi Tarani, Giovanna Blacona, Francesca Tarani, Christian Barbato, Antonio Minni, Massimo Ralli, Silvia Francati, Antonio Greco, Carla Petrella, Marco Fiore
Summary: Infertility is a global health issue defined by the WHO as the inability to establish a pregnancy after 12 months of unprotected sexual intercourse. Male infertility can be caused by congenital or acquired factors and its therapeutic approach depends on the underlying causes. Recent studies suggest a potential role of nerve growth factor (NGF) in male reproductive physiology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Chying-Chyuan Chan, Te-Hsin Yen, Hao-Chen Tseng, Brang Mai, Pin-Kuan Ho, Jian-Liang Chou, Gwo-Jang Wu, Yu-Chuan Huang
Summary: Advanced reproductive technologies have been used to identify genetic mutations associated with male infertility. This study identified potential single nucleotide polymorphisms (SNPs) related to male infertility through targeted next-generation sequencing (NGS) and whole exome sequencing (WES). The validation step of Sanger sequencing added confidence to the identified variants. Mutations in SPATA16, CFTR, KIF6, STPG2, and DRC7 were found to be associated with male infertility, particularly azoospermia. These findings suggest that dysfunction of microtubule-related and spermatogenesis-specific genes contributes to idiopathic male infertility and further investigations are needed.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Tong-Yao Hu, Huan Zhang, Lan-Lan Meng, Shi-Min Yuan, Chao-Feng Tu, Juan Du, Guang-Xiu Lu, Ge Lin, Hong-Chuan Nie, Yue-Qiu Tan
Summary: Sequence variants of the ZMYND15 gene have been identified as causing severe oligozoospermia (SO) and male infertility, leading to impaired reproductive capacity in affected individuals. Through in vivo and in vitro experiments, it was revealed that infertility in patients may be attributed to variants in the ZMYND15 gene. This finding expands the disease phenotype spectrum and provides insights for clinical treatment.
Article
Endocrinology & Metabolism
A. Ferlin, A. E. Calogero, C. Krausz, F. Lombardo, D. Paoli, R. Rago, C. Scarica, M. Simoni, C. Foresta, V Rochira, E. Sbardella, S. Francavilla, G. Corona
Summary: This article presents guidelines for the diagnosis, treatment, and management of male factor infertility, highlighting the importance of a couple-oriented approach and assessing risk factors.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2022)
Article
Obstetrics & Gynecology
Bita Moudi, Azam Asemi-Rad, Nadia Sheibak, Zahra Heidari, Hamidreza Mahmoudzadeh-Sagheb
Summary: This study investigated the association between CHD5 gene variants and male infertility risk using the tetra primer-ARMS-PCR method. The results revealed that the rs12067480 T and rs2273032 A alleles were associated with an increased risk of male infertility. Additionally, the interaction of certain genotypes and haplotypes further increased the risk of infertility. These findings contribute to the understanding of the genetic factors underlying male infertility and have implications for its diagnosis and treatment.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH
(2023)
Review
Biology
Maria-Anna Kyrgiafini, Theologia Sarafidou, Zissis Mamuris
Summary: Male infertility is a complex disorder that affects many couples worldwide. Long noncoding RNAs (lncRNAs) play important regulatory roles in male infertility, but there is limited understanding of their exact role in the condition. This systematic review examines differential expressions of lncRNAs in male infertility and variations in lncRNA regions associated with it. The review found that many lncRNAs are deregulated in male infertility and that interactions between lncRNAs and miRNAs are significant. Additionally, the review identified certain lncRNAs that are differentially expressed in multiple subtypes of male infertility and their association with bladder and prostate cancer. However, more research is needed to understand the precise mechanisms of these lncRNAs and investigate the link between male infertility and cancer.
Review
Biochemistry & Molecular Biology
Madalina Gabriela Barbu, Dana Claudia Thompson, Nicolae Suciu, Silviu Cristian Voinea, Dragos Cretoiu, Dragos Valentin Predescu
Summary: MicroRNAs play a significant role in male infertility, with their concentration in semen being linked to specific reproductive dysfunctions. Aberrant expression of certain microRNAs has been associated with male reproductive disorders. Additionally, idiopathic male infertility is connected to single nucleotide polymorphisms in microRNA binding sites.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Maria-Anna Kyrgiafini, Zissis Mamuris
Summary: This systematic review investigates the differential expression of circRNAs in male infertility and their potential as candidate biomarkers. It was found that many circRNAs are deregulated in male infertility and their interactions with miRNAs play a crucial role in cellular processes and pathways. CircRNAs could also be used as biomarkers for screening patients before sperm retrieval, but there is a knowledge gap regarding their role in other subtypes of male infertility.
Article
Genetics & Heredity
Saurav Dutta, Pranab Paladhi, Samudra Pal, Gunja Bose, Papiya Ghosh, Ratna Chattopadhyay, Baidyanath Chakravarty, Sujay Ghosh
Summary: This study conducted screening for Y chromosome microdeletion in infertile male cohort from West Bengal, India and found that microdeletions were more common in azoospermic males. The findings suggest that Y chromosome microdeletion plays a significant role in the genetic etiology of infertility among Bengali men.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Cell Biology
Haiming Cao, Zi Wan, Fei Wang, Ziyin Liu, Xiaofeng Li, Jianquan Hou
Summary: The study identified 27 shared genes associated with spermatogenesis through reanalyzing gene expression databases and validation datasets. Among these genes, KIF2C and TEKT2 were found to be down-regulated in spermatogenesis and validated in multiple datasets. The study also established a TF-miRNA-target gene network, suggesting that KIF2C may play a role in spermatogenesis through interactions with miRNAs and TFs.
Article
Obstetrics & Gynecology
Lauren M. Kendall Rauchfuss, Tana Kim, Jessica L. Bleess, Matthew J. Ziegelmann, Chandra C. Shenoy
Summary: This study found that for men with oligospermia, the use of testicular sperm did not result in better outcomes compared to ejaculated sperm for intracytoplasmic sperm injection. The two groups of patients had similar baseline characteristics, but the TESE group had lower fertilization rates and fewer blastocyst embryos compared to the ejaculated sperm group.
FERTILITY AND STERILITY
(2021)
Article
Andrology
Tuba Kulac, Neslihan Hekim, Fatih Kocamanoglu, Cengiz Beyaz, Sezgin Gunes, Ramazan Asci
Summary: The methylation status of the MTHFR gene promoter does not seem to be associated with male infertility, as indicated by the findings of this study.
Review
Obstetrics & Gynecology
Poonam Mehta, Rahul Vishvkarma, Kiran Singh, Singh Rajender
Summary: Meta-analyses showed a significant association between MTHFR 1298A>C substitution and recurrent pregnancy loss, with a stronger correlation observed in Caucasian populations compared to East Asian populations. The substitution is identified as a strong risk factor for RPL specifically in Caucasians.
REPRODUCTIVE SCIENCES
(2022)
Article
Andrology
Syed Waseem Andrabi, Pallavi Saini, Meghali Joshi, Poonam Mehta, Girish Chandra Makker, Geetanjali Mishra, Singh Rajender
Summary: The study found that hCG therapy is effective in improving andrological parameters and sperm production in hypogonadotropic azoospermic males. Y-chromosome deletion analysis has prognostic significance in predicting the success of hCG therapy.
Article
Obstetrics & Gynecology
Saumya Sarkar, Santosh Yadav, Poonam Mehta, Gopal Gupta, Singh Rajender
Summary: Gene expression during spermatogenesis is regulated by H3 histone modifications, with H3K4me3 marks associated with gene activation and H3K9me3 marks associated with gene repression. This study found that H3K4me3-enriched genes were highly expressed in round spermatids, while H3K9me3-enriched genes showed low expression levels. Furthermore, genes with overlapping H3K4me3 and H3K9me3 marks in round spermatids were also expressed in sperm. These findings suggest that H3 histone modifications play a crucial role in sperm differentiation and setting the RNA payloads of sperm.
REPRODUCTIVE SCIENCES
(2022)
Article
Obstetrics & Gynecology
Ahmed T. Alahmar, Rajender Singh
Summary: This study compared the effects of coenzyme Q10 (CoQ10) and Centrum multivitamins on semen parameters, antioxidant capacity, and sperm DNA fragmentation (SDF) in infertile men with idiopathic oligoasthenospermia (OA). The results showed that both CoQ10 and Centrum improved semen parameters, antioxidant capacity, and SDF, but Centrum had greater improvement compared to CoQ10. Therefore, Centrum may be more effective in treating infertile men with idiopathic OA compared to individual antioxidants like CoQ10.
CLINICAL AND EXPERIMENTAL REPRODUCTIVE MEDICINE-CERM
(2022)
Article
Andrology
Meghali Joshi, Syed Waseem Andrabi, Vertika Singh, Sandeep Kumar Bansal, Girish Chandra Makker, Geetanjali Mishra, Gopal Gupta, Singh Rajender
Summary: By analyzing the sperm transcriptome through deep sequencing, we have identified RNA transcripts, including miRNAs and mRNAs, that have the potential to serve as markers for male infertility/sperm quality. The expression of these transcripts showed significant differences between infertile and fertile individuals, and the differentially expressed genes were found to be involved in crucial processes such as male germ cell differentiation and spermatogenesis.
Review
Andrology
Rumaisa Rashid, Anamika Kumari, Naibedya Chattopadhyay, Rajesh Jha, Singh Rajender
Summary: This study conducted a quantitative meta-analysis on published animal studies to evaluate the effects of genistein exposure on male reproductive system and pregnancy progression. The results showed that genistein has detrimental effects on sperm count in males and on pregnancy progression, especially when exposed in utero.
Article
Andrology
Fahimeh Piryaei, Hossein Mozdarani, Mohammad Ali Sadighi Gilani, Singh Rajender, Renata Finelli, Mahsa Darestanifarahani, Abdolazim Sarli, Poonam Mehta, Ashok Agarwal
Summary: Small RNA sequencing was performed on testicular tissues of nonobstructive azoospermic patients with SCOS and obstructive azoospermic individuals. A total of 136 miRNAs were differentially expressed, with potential involvement in spermatogenesis pathways.
Review
Andrology
Anam Ara, Rahul Vishvkarma, Poonam Mehta, Singh Rajender
Summary: This meta-analysis evaluated the profertility and aphrodisiac effects of Tribulus terrestris L. The results showed significant improvements in sperm concentration and motility in humans, as well as improvements in sperm parameters in rodents. The effect on hormone levels varied across studies and animal models. Overall, Tribulus terrestris L. exhibited profertility and aphrodisiac activities.
Review
Andrology
Ashok Agarwal, Rossella Cannarella, Ramadan Saleh, Florence Boitrelle, Murat Gul, Tuncay Toprak, Gianmaria Salvio, Mohamed Arafa, Giorgio I. Russo, Ahmed M. Harraz, Rajender Singh, Nicolas Garrido, Taha Abo-Almagd Abdel-Meguid Hamoda, Amarnath Rambhatla, Parviz Kavoussi, Shinnosuke Kuroda, Gokhan Calik, Pallavi Saini, Erman Ceyhan, Fotios Dimitriadis, Ralf Henkel, Andrea Crafa, Ayad Palani, Mesut Berkan Duran, Evangelos Maziotis, Emine Sais, Marion Bendayan, Mahsa Darbandi, Tan V. Le, Sezgin Gunes, Petroula Tsioulou, Pallav Sengupta, Berk Hazir, Gokhan Ceker, Sara Darbandi, Damayanthi Durairajanayagam, Azin Aghamajidi, Noora Alkhalidi, Emrullah Sogutdelen, Kristian Leisegang, Abdullah Alarbid, Christopher C. K. Ho, Vineet Malhotra, Federica Finocchi, Luis Crisostomo, Raghavender Kosgi, Haitham ElBardisi, Armand Zini, Ponco Birowo, Giovanni Colpi, Hyun Jun Park, Ege Can Serefoglu, Quang Nguyen, Edmund Ko, Jean de la Rosette, Germar M. Pinggera, Ho Vinh Phuoc Nguyen, Hussein Kandil, Rupin Shah
Summary: This study provides evidence for the positive effect of varicocele repair on conventional semen parameters in infertile men with clinical varicocele. There is significant improvement in sperm concentration, total motility, progressive motility, total sperm motility, and normal sperm morphology after varicocele repair. However, there is high inter-study heterogeneity.
WORLD JOURNAL OF MENS HEALTH
(2023)