Review
Biochemistry & Molecular Biology
Francesca Cioppi, Viktoria Rosta, Csilla Krausz
Summary: Azoospermia can be caused by various genetic factors, with different diagnostic yields in different etiological categories. Whole-Exome Sequencing has led to the discovery of numerous potential candidate genes for Non-Obstructive Azoospermia, which could significantly impact future gene panel-based screenings and patient management. Additionally, approximately 37% of candidate genes are shared in male and female gonadal failure, suggesting the importance of extending genetic counseling to female family members of NOA patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Andrology
Gavin D. Stormont, Christopher M. Deibert
Summary: Infertility affects about 15% of couples, requiring a comprehensive evaluation of both men and women. Evaluation for male infertility includes semen analysis and karyotype analysis to identify chromosomal abnormalities.
TRANSLATIONAL ANDROLOGY AND UROLOGY
(2021)
Review
Cell Biology
Yong Xu, Qianqian Pang
Summary: The male-specific Y chromosome plays a significant role in testis development and function. It has unique characteristics such as diverse repetitive sequences and palindrome structure. Deletions of certain sequences can lead to spermatogenesis disorders and male infertility, as well as increase the susceptibility to reproductive system cancers. Additionally, the Y chromosome has special value in forensic medicine for personal identification and parentage testing. However, the analysis of Y chromosome sequences and the study of Y-gene function still face unresolved problems due to the high complexity and limitations of sequencing technology.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Chao Liu, Hongbin Liu, Haobo Zhang, Lina Wang, Mengjing Li, Feifei Cai, Xiuge Wang, Li Wang, Ruidan Zhang, Sijie Yang, Wenwen Liu, Yu Liang, Liying Wang, Xiaohui Song, Shizhen Su, Hui Gao, Jing Jiang, Jinsong Li, Mengcheng Luo, Fei Gao, Qi Chen, Wei Li, Zi-Jiang Chen
Summary: Klinefelter syndrome may originate from paternal USP26 gene mutations, leading to the production of XY aneuploid spermatozoa. These research findings are crucial for understanding the origin and inheritance of KS.
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)
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)
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
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
Urology & Nephrology
Sercan Ergun, Sezgin Gunes, Neslihan Hekim, Sandro C. Esteves
Summary: This study revealed that microdeletion on the Y-chromosome could alter post-transcriptional gene expression regulation through miRNA competition.
INTERNATIONAL UROLOGY AND NEPHROLOGY
(2022)
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.
Review
Andrology
Jeffrey M. Mann, Chao Wei, Chen Chen
Summary: This review focuses on a crucial step in piRNA biogenesis, piRNA trimming, where pre-piRNAs are shortened to final lengths of 21-35 nucleotides. Mutations of the piRNA trimmers lead to increased transposon expression, elevated levels of untrimmed pre-piRNAs, decreased piRNA stability, and male infertility.
Article
Andrology
Liang-Yu Zhao, Peng Li, Chen-Cheng Yao, Ru-Hui Tian, Yu-Xin Tang, Yu-Zhuo Chen, Zhi Zhou, Zheng Li
Summary: This study reveals the transcriptome changes in different testicular cell types of Klinefelter syndrome (KS) patients. Sertoli cells show the largest transcriptome changes in KS patients. Further research indicates that the loss of X-inactive-specific transcript (XIST) in Sertoli cells leads to an increase in X chromosome gene levels and disrupts their transcription pattern and cellular function. This phenomenon is not observed in other somatic cells. This study provides an important theoretical basis for explaining the heterogeneity of testicular atrophy in KS patients and subsequent related treatment.
ASIAN JOURNAL OF ANDROLOGY
(2023)
Review
Andrology
Wallace Yuen, Andrew P. Golin, Ryan Flannigan, Peter N. Schlegel
Summary: Y chromosome microdeletions are a common genetic cause of male infertility, leading to azoospermia or severe oligozoospermia. Surgical sperm retrieval is often necessary for men with Y chromosome microdeletions to undergo assisted reproductive technologies. Different subtypes of AZF deletions have varying degrees of impact on sperm production, with AZFc deletions having the highest success rate for sperm retrieval.
TRANSLATIONAL ANDROLOGY AND UROLOGY
(2021)
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
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)
Article
Urology & Nephrology
Sandro C. Esteves
INTERNATIONAL BRAZ J UROL
(2022)
Review
Genetics & Heredity
Romualdo Sciorio, Luca Tramontano, Erika Rapalini, Serena Bellaminutti, Francesco M. Bulletti, Antonio D'Amato, Claudio Manna, Antonio Palagiano, Carlo Bulletti, Sandro C. Esteves
Summary: Assisted reproductive technology may have an impact on the epigenome of embryos, but the extent of this influence is not yet clear. Concerns have been raised about the increased occurrence of epigenetic anomalies and imprinting following assisted reproductive technology. The periconceptional period is particularly vulnerable to environmental conditions, and various factors in assisted reproductive technology have the potential to disrupt epigenetic regulation.
Article
Obstetrics & Gynecology
Sandro C. Esteves, Arnold P. P. Achermann, Manuela Simoni, Daniele Santi, Livio Casarini
Summary: Evidence-based gonadotropin therapy effectively restores spermatogenesis and fertility in male infertility disorders associated with hypogonadotropic hypogonadism. However, its use to improve fertility in men with idiopathic oligozoospermia or nonobstructive azoospermia remains controversial. Real-world data research suggests that gonadotropin therapy may be more effective in managing selected male infertility patients, with potential gains for all parties involved.
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
(2023)
Article
Obstetrics & Gynecology
Panagiotis Drakopoulos, Yakoub Khalaf, Sandro C. Esteves, Nikolaos P. Polyzos, Sesh K. Sunkara, Daniel Shapiro, Botros Rizk, Hong Ye, Michael Costello, Yulia Koloda, Bruno Salle, Monica Lispi, Thomas D'Hooghe, Antonio La Marca
Summary: A high ovarian response refers to a greater number of follicles and/or oocytes compared to a normal response. It can be diagnosed before oocyte pick-up when there are >18-20 follicles ≥11-12 mm, or after oocyte pick-up when >18-20 oocytes have been retrieved. Women with a high response are at high risk of ovarian hyperstimulation syndrome (OHSS). Appropriate management strategies, such as individualized gonadotropin dosing, monitoring, and choice of protocols, can greatly reduce the risk of high response.
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
(2023)
Letter
Obstetrics & Gynecology
Sandro C. Esteves, Jose F. Carvalho
FERTILITY AND STERILITY
(2023)
Article
Obstetrics & Gynecology
Esra Uyanik, Sezcan Mumusoglu, Mehtap Polat, Irem Yarali Ozbek, Sandro C. Esteves, Peter Humaidan, Hakan Yarali
Summary: A drop in serum P-4 level from oocyte pick-up (OPU) + 3 days to OPU + 5 days may result in a decrease in ongoing pregnancy rates. This decrease may be associated with lower initial pregnancy rates rather than increased overall pregnancy loss rates.
HUMAN REPRODUCTION
(2023)
Review
Andrology
Sandro C. Esteves, Igor Coimbra, Jorge Hallak
Summary: Intracytoplasmic sperm injection (ICSI) using surgically retrieved spermatozoa outside the classic context of azoospermia has shown improvement in pregnancy and miscarriage rates, possibly due to lower levels of DNA damage in testicular spermatozoa compared to ejaculated spermatozoa. However, data is limited and mainly focuses on males with confirmed sperm DNA damage. Further research is needed to assess the health of ICSI offspring resulting from surgically retrieved spermatozoa of non-azoospermic males. A comprehensive evaluation and treatment of underlying male infertility factors contributing to sperm DNA damage is crucial for safer and more effective ICSI utilization.
Article
Obstetrics & Gynecology
Vera Baukloh, Rita C. S. Figueira, Fabiola C. Bento, Fabiana Y. Nakano, Silval F. C. Zabaglia, Sandro C. Esteves, Robert Fischer
Summary: This report presents real-life data from two clinics using the Fischer protocol for cycle programming in patients undergoing assisted reproductive technology (ART) treatment. The study found that ovarian stimulation using the Fischer protocol provides consistent and optimal ART outcomes. However, high rates of multiple implantation were observed, especially when transferring two embryos to patients aged over 39 years. Live birth rates were higher after comprehensive chromosome screening (CCS) compared to untested embryos. Therefore, the recommendation is to implement a single embryo transfer policy, particularly for women under 34 years of age with favorable ART treatment conditions.
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
(2023)
Article
Obstetrics & Gynecology
Gerard Campos, Romualdo Sciorio, Sandro C. Esteves
Summary: Total fertilization failure is the failure of all metaphase II oocytes to fertilize in assisted reproduction cycles. Oocyte activation deficiency is the main cause of fertilization failure, attributed to sperm or oocyte issues. Diagnostic testing and artificial oocyte activation treatments are crucial for overcoming fertilization failure.
HUMAN REPRODUCTION UPDATE
(2023)
Article
Reproductive Biology
Luca Tramontano, Romualdo Sciorio, Serena Bellaminutti, Sandro C. Esteves, Patrick Petignat
Summary: Human papillomavirus (HPV) is a common sexually transmitted disease associated with cancer and reproductive health issues. The influence of HPV on assisted reproductive technology (ART) outcomes is not well understood, leading to a need for HPV testing in couples undergoing infertility treatments. Infertile men with seminal HPV infection may experience compromised sperm quality and reproductive function, highlighting the importance of investigating the correlation between HPV and ART outcomes. Understanding the potential detrimental effects of HPV on ART outcomes may have significant implications for infertility management.
REPRODUCTIVE BIOLOGY
(2023)
Editorial Material
Urology & Nephrology
Sandro C. Esteves
INTERNATIONAL BRAZ J UROL
(2023)
Article
Medicine, General & Internal
Michael L. Eisenberg, Sandro C. Esteves, Dolores J. Lamb, James M. Hotaling, Aleksander Giwercman, Kathleen Hwang, Yu-Sheng Cheng
Summary: Clinical infertility refers to the inability of a couple to conceive after 12 months of trying. Male factors contribute to 30-50% of infertility cases. Infertility can be caused by testicular dysfunction, endocrinopathies, lifestyle factors, congenital anatomical factors, gonadotoxic exposures, and aging among others. The evaluation of male infertility includes history taking, physical examination, and laboratory testing. Treatments include lifestyle optimization, medical therapy, and surgical interventions.
NATURE REVIEWS DISEASE PRIMERS
(2023)
Article
Obstetrics & Gynecology
Jeanett L. M. Nielsen, Ahmad Majzoub, Sandro Esteves, Peter Humaidan
Summary: In recent years, there has been an increasing interest in identifying subcellular causes of male infertility, with a focus on sperm DNA fragmentation (SDF) research. SDF can occur during spermatogenesis or as sperm transit through the genital tract, negatively impacting male reproductive potential. Studies have found that DNA damage is associated with sperm morphological and functional abnormalities, ultimately affecting natural conception and assisted reproductive technology outcomes.
SEMINARS IN REPRODUCTIVE MEDICINE
(2023)
Review
Endocrinology & Metabolism
Francesco Pallotti, Sandro C. Esteves, Fabiana Faja, Alessandra Buonacquisto, Anna Chiara Conflitti, Maria Neve Hirsch, Andrea Lenzi, Donatella Paoli, Francesco Lombardo
Summary: COVID-19 may have indirect effects on male reproductive system, but there is limited evidence to support this. Despite the low quality of available evidence, careful andrological evaluation and follow-up for men recovering from COVID-19 are still necessary.
Meeting Abstract
Obstetrics & Gynecology
Markus S. Kupka, Monica Augustyniak, Sandro C. Esteves, Giovanni Coticchio, Anita Fincham, Patrice Lazure, Sophie Peloquin
FERTILITY AND STERILITY
(2022)
