Article
Obstetrics & Gynecology
L. Priskorn, M. Kreiberg, M. Bandak, J. Lauritsen, G. Daugaard, J. H. Petersen, L. Aksglaede, A. Juul, N. Jorgensen
Summary: The study found that anogenital distance (AGD) is shorter in testicular cancer survivors compared to men from the general population, and that AGD is not affected by testosterone replacement therapy in adulthood. This supports the hypothesis that reduced AGD is part of the testicular dysgenesis syndrome and may be a marker of disrupted foetal testicular development.
HUMAN REPRODUCTION
(2021)
Article
Biotechnology & Applied Microbiology
Zhizhong Liu, Bairong Fang, Jian Cao, Qianyin Zhou, Fang Zhu, Liqing Fan, Lei Xue, Chuan Huang, Hao Bo
Summary: Testicular germ cell tumor (TGCT) is a relatively rare tumor but the most common solid tumor in young men. LINC00313, a long noncoding RNA, plays important roles in promoting migration and invasion in TGCT through regulating the expression of epithelial-mesenchyme transition related proteins. In addition, LINC00313 expression is negatively correlated with copy number variation and immune cell infiltration. Panobinostat shows potential as a drug targeting LINC00313 in TGCT.
Review
Oncology
Jane Belfield, Charlotte Findlay-Line
Summary: This article provides a detailed description of the use of ultrasound in germ cell tumours and offers guidance on performing an ultrasound examination. It also includes the classification of germ cell tumours and describes the key features of different types of tumours. The challenges and pitfalls of ultrasound are discussed, as well as other applications of ultrasound in this patient group.
Article
Multidisciplinary Sciences
Liza O'Donnell, Laura F. Dagley, Michael Curley, Annalucia Darbey, Peter J. O'Shaughnessy, Thorsten Diemer, Adrian Pilatz, Daniela Fietz, Peter G. Stanton, Lee B. Smith, Diane Rebourcet
Summary: In this study, Sertoli cell-enriched proteins in testicular interstitial fluid (TIF) were identified and found to play potential roles in regulating somatic cell-cell communication and testis function.
Article
Pediatrics
Giorgio Persano, Alessandro Crocoli, Maria Debora De Pasquale, Raffaele Cozza, Rita Alaggio, Francesca Diomedi Camassei, Federico Beati, Pierluigi Di Paolo, Cristina Martucci, Alessandro Inserra
Summary: Burned-out testicular tumors are a distinct clinical entity characterized by nodal or visceral metastases as clinical manifestations without a clinically or radiologically evident primary testicular lesion. These tumors are associated with systemic symptoms, higher levels of tumor markers, increased treatment-related toxicity, and poorer outcomes compared to primary testicular tumors. Further research is needed to better understand burned-out testicular tumors and develop more effective therapeutic strategies.
FRONTIERS IN PEDIATRICS
(2021)
Article
Environmental Sciences
Hong-Mei Li, Yuan-Yuan Li, Ying-Chi Zhang, Jin-Bo Li, Hai-Ming Xu, Yi-Ming Xiong, Zhan-Fen Qin
Summary: This study reveals for the first time that low concentrations of BPB can disrupt testis differentiation partly due to its estrogenic activity and subsequently cause testicular dysgenesis after metamorphosis, highlighting its reproductive risk to amphibians and other vertebrates including humans. Our finding also implies that estrogenic chemicals-caused testis differentiation inhibition at tadpole stages could predict later testicular dysgenesis after metamorphosis, meaning a possibility of early detection of abnormal testis development caused by estrogenic chemicals.
ECOTOXICOLOGY AND ENVIRONMENTAL SAFETY
(2022)
Review
Cell Biology
Daniel M. Berney, Ian Cree, Vishal Rao, Holger Moch, John R. Srigley, Toyonori Tsuzuki, Mahul B. Amin, Eva M. Comperat, Arndt Hartmann, Santosh Menon, George J. Netto, Mark A. Rubin, Samra Turajlic, Maria R. Raspollini, Satish K. Tickoo
Summary: The 5th edition of the WHO Blue Book provides a comprehensive update on testicular tumours, while retaining the structure and nomenclature of the previous edition. The classification paradigm remains rooted in morphology, but important changes have been made in terms of terminology and the inclusion of new entities. The update highlights the importance of both molecular understanding and morphology in the study of testicular cancer.
Review
Oncology
Chiara Bresesti, Valeria Vezzoli, Biagio Cangiano, Marco Bonomi
Summary: In recent years, long non-coding RNAs (lncRNAs) have gained increasing attention in the scientific community, particularly for their potential clinical applications in cancer, including testicular cancer. Understanding the impact of lncRNAs on testicular cancer tumorigenesis could lead to the development of more effective and less toxic treatment options. Utilizing lncRNAs as biomarkers, drug targets, or therapeutics may offer a valid alternative to conventional tools and improve the management of testicular cancer and its related conditions.
FRONTIERS IN ONCOLOGY
(2021)
Article
Multidisciplinary Sciences
Harshita Dubey, Garima Jain, Chandan Kumar, Amar Ranjan, Atul Batra, Santosh Kumar Chellapuram, Swati Gupta, Harsh Goel, Anil Sharma, Pranay Tanwar
Summary: This article reports a case of an adult male presenting with an intra-abdominal mass, inguinal lymphadenopathy, and deranged kidney function test. Bone marrow aspirate smear showed metastatic tumor cells, while bone marrow biopsy was unremarkable. High serum β-HCG levels indicated a germ cell lesion. Lymph node biopsy and immunomarkers confirmed metastatic foci from a germ cell tumor and were managed according to standard protocol. Rarely, bone marrow aspirate can be positive for malignancy while biopsy turns out to be negative. Additionally, bone marrow metastasis of germ cell tumors should be considered in cases like this.
Review
Endocrinology & Metabolism
Juho-Antti Makela, Jorma Toppari
Summary: The RB protein family members play crucial roles in cell cycle progression, apoptosis, and stem cell self-renewal and differentiation. RB proteins exert their effects through interaction with E2F transcription factors. RB and E2F family members are widely and dynamically expressed in the testis and have versatile roles during spermatogenesis. RB-E2F interaction is critical for male fertility and proper germline maintenance and lifelong sperm production.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Genetics & Heredity
I-Shen Huang, Wei-Jen Chen, Li-Hua Li, Eric Yi-Hsiu Huang, Jen-Fan Hang, Chih-Yi Hsu, Chin-Chen Pan, Robert E. Brannigan, William J. Huang
Summary: The purpose of this study was to compare the diagnostic value of testicular tissue touch print smear (TPS), histopathology, and in vitro fertility (IVF) lab findings in azoospermic patients. TPS showed high positive predictive value and negative predictive value for predicting sperm presence or absence compared to IVF lab results. TPS also had a high correlation with results of histological diagnoses performed by needle biopsy in detecting sperm presence.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Oncology
Nianyu Xue, Guoyao Wang, Shengmin Zhang, Yijun Lu
Summary: Unlike younger patients, seminoma is not common in patients with primary testicular tumors over the age of 50. The diagnostic value of conventional ultrasonography and contrast-enhanced ultrasonography (CEUS) in these patients was compared. The CEUS method showed higher accuracy in distinguishing between germ cell tumors and non-germ cell tumors.
FRONTIERS IN ONCOLOGY
(2023)
Review
Andrology
Ali Amiri, Michal Chovanec, Viktor Oliva, Milan Sedliak, Michal Mego, Jozef Ukropec, Barbara Ukropcova
Summary: TGCTs are the most common type of malignancy in young male adults, with a high cure rate but significant treatment-related adverse effects. Recent research has shown that regular physical exercise can help reduce chemotherapy-related toxicity and improve quality of life in survivors.
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Duygu Has Simsek, Caner Civan, Meltem Ekenel, Serkan Kuyumcu, Yasemin Sanli
Summary: Overexpression of prostate-specific membrane antigen (PSMA) is demonstrated in various tumors, and radionuclide therapies directed at PSMA might be effective in treating PSMA-avid malignancies. A case study of a 46-year-old male with progressive metastatic testicular mixed germ cell tumor showed mixed response in Ga-68-PSMA PET/CT after Lu-177-PSMA therapy, suggesting the need for further optimization of treatment strategies.
CLINICAL NUCLEAR MEDICINE
(2021)
Article
Reproductive Biology
Won -Yong Lee, Hyun-Jung Park
Summary: In this study, the toxicity of CeO(2)NPs on mouse testes was evaluated using in vitro organ cultures. The results showed that CeO(2)NPs could reduce the number of germ cells in a dose-dependent manner and disturb the function of Sertoli cells and steroidogenesis.
REPRODUCTIVE TOXICOLOGY
(2022)
Review
Obstetrics & Gynecology
Brendan J. Houston, Antoni Riera-Escamilla, Margot J. Wyrwoll, Albert Salas-Huetos, Miguel J. Xavier, Liina Nagirnaja, Corinna Friedrich, Don F. Conrad, Kenneth Aston, Csilla Krausz, Frank Tuttelmann, Moira K. O'Bryan, Joris A. Veltman, Manon S. Oud
Summary: Research has shown a significant genetic component in male infertility, particularly monogenic causes. The field had been slow in adopting next-generation sequencing technologies and lacked clear statements on validated causes of human male infertility. Through clinical validity assessment, 120 genes were identified to be moderately, strongly or definitively linked to 104 infertility phenotypes.
HUMAN REPRODUCTION UPDATE
(2022)
Article
Multidisciplinary Sciences
M. S. Oud, R. M. Smits, H. E. Smith, F. K. Mastrorosa, G. S. Holt, B. J. Houston, P. F. de Vries, B. K. S. Alobaidi, L. E. Batty, H. Ismail, J. Greenwood, H. Sheth, A. Mikulasova, G. D. N. Astuti, C. Gilissen, K. McEleny, H. Turner, J. Coxhead, S. Cockell, D. D. M. Braat, K. Fleischer, K. W. M. D'Hauwers, E. Schaafsma, L. Nagirnaja, D. F. Conrad, C. Friedrich, S. Kliesch, K. I. Aston, A. Riera-Escamilla, C. Krausz, C. Gonzaga-Jauregui, M. Santibanez-Koref, D. J. Elliott, L. E. L. M. Vissers, F. Tuettelmann, M. K. O'Bryan, L. Ramos, M. J. Xavier, G. W. van der Heijden, J. A. Veltman
Summary: This study examines the role of de novo mutations in severe male infertility. Through trio-based exome sequencing, the researchers identified a significant enrichment of loss-of-function de novo mutations in infertile men. They also identified a new candidate gene, RBM5, which is associated with male infertility. This study provides evidence for the importance of de novo mutations in male infertility and identifies potential genetic causes.
NATURE COMMUNICATIONS
(2022)
Editorial Material
Andrology
Rafael Oliva, Csilla Krausz, Ewa Rajpert-De Meyts
Article
Endocrinology & Metabolism
S. Marchiani, S. Dabizzi, S. Degl'Innocenti, M. G. Fino, M. G. Torcia, D. Paoli, F. Lombardo, N. Ciccone, S. Pollini, G. M. Rossolini, L. Vignozzi, C. Krausz, E. Baldi
Summary: European semen banks have implemented various measures to handle semen samples during the COVID-19 pandemic, but most centers did not adopt particularly drastic safety protocols. Nasopharyngeal swab testing is recommended to better manage couples undergoing assisted reproductive technology and to protect personnel.
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
(2022)
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
Biochemistry & Molecular Biology
Francesco Pallotti, Giulia Senofonte, Fani Konstantinidou, Silvia Di Chiano, Fabiana Faja, Flavio Rizzo, Francesco Cargnelutti, Csilla Krausz, Donatella Paoli, Andrea Lenzi, Liborio Stuppia, Valentina Gatta, Francesco Lombardo
Summary: Virilization of AFAB individuals through testosterone therapy can result in phenotypic changes, although inter-individual differences in timing and acquisition of characteristics are commonly observed. The study investigated the relationship between CpG methylation profiles of ESR2 and H19 promoters and their influence on phenotypic modifications in AFAB individuals undergoing testosterone therapy. Results showed a significant increase in methylation of the ESR2 promoter but not the H19 promoter after 6 and 12 months of treatment. Epigenetic changes appeared to be regulated and associated with patient age and testosterone levels. The study suggests that epigenetic regulation may play a role in phenotypical changes after testosterone treatment.
Article
Genetics & Heredity
Antoni Riera-Escamilla, Matthias Vockel, Liina Nagirnaja, Miguel J. Xavier, Albert Carbonell, Daniel Moreno-Mendoza, Marc Pybus, Ginevra Farnetani, Viktoria Rosta, Francesca Cioppi, Corinna Friedrich, Manon S. Oud, Godfried W. van der Heijden, Armin Soave, Thorsten Diemer, Elisabet Ars, Josvany Sanchez-Curbelo, Sabine Kliesch, Moira K. O'Bryan, Eduard Ruiz-Castane, Fernando Azorin, Joris A. Veltman, Kenneth Aston, Donald F. Conrad, Frank Tuettelmann, Csilla Krausz
Summary: This study provides a significant contribution to the understanding of X chromosome-linked genetic causes of azoospermia/cryptozoospermia. It identifies 21 genes strongly associated with azoospermia/cryptozoospermia and 34 genes moderately associated, including one prioritized gene, RBBP7, which was found mutated in ten men and supported by functional studies in Drosophila.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Multidisciplinary Sciences
Liina Nagirnaja, Alexandra M. Lopes, Wu-Lin Charng, Brian Miller, Rytis Stakaitis, Ieva Golubickaite, Alexandra Stendahl, Tianpengcheng Luan, Corinna Friedrich, Eisa Mahyari, Eloise Fadial, Laura Kasak, Katinka Vigh-Conrad, Manon S. Oud, Miguel J. Xavier, Samuel R. Cheers, Emma R. James, Jingtao Guo, Timothy G. Jenkins, Antoni Riera-Escamilla, Alberto Barros, Filipa Carvalho, Susana Fernandes, Joao Goncalves, Christina A. Gurnett, Niels Jorgensen, Davor Jezek, Emily S. Jungheim, Sabine Kliesch, Robert McLachlan, Kenan R. Omurtag, Adrian Pilatz, Jay Sandlow, James Smith, Michael L. Eisenberg, James M. Hotaling, Keith A. Jarvi, Margus Punab, Ewa Rajpert-De Meyts, Douglas T. Carrell, Csilla Krausz, Maris Laan, Moira K. O'Bryan, Peter N. Schlegel, Frank Tuettelmann, Joris A. Veltman, Kristian Almstrup, Kenneth Aston, Donald F. Conrad
Summary: In this study, exome-sequencing was conducted on over 1000 clinically diagnosed NOA cases, and a potential recessive Mendelian cause was identified in 20% of the cases. Integration with single-cell RNA sequencing data revealed different molecular subforms of azoospermia genes, including previously unrecognized subforms. This study highlights the importance of studying NOA as an understudied Mendelian disorder and provides a rational basis for understanding the complex genetics of male infertility.
NATURE COMMUNICATIONS
(2022)
Article
Oncology
Donovan Chan, Kathleen Oros Klein, Antoni Riera-Escamilla, Csilla Krausz, Cristian O'Flaherty, Peter Chan, Bernard Robaire, Jacquetta M. Trasler
Summary: This study aims to determine the impact of HD and TC and their treatments on sperm DNA methylation. The results show that imprinted gene methylation is not affected in sperm before or after treatment. However, sperm epigenetic defects are still evident in some cancer survivors up to 2 years post-treatment.
CLINICAL EPIGENETICS
(2023)
Article
Developmental Biology
Sara Pietroforte, Montserrat Barragan Monasterio, Anna Ferrer-Vaquer, Manuel Irimia, Elena Ibanez, Mina Popovic, Rita Vassena, Filippo Zambelli
Summary: Human meiosis in oocytes involves complex regulation of the transcriptome, with a focus on pre-mRNA processing and translation rates. Through RNA sequencing analysis of 40 human oocytes at different meiotic maturation stages, we observed significant changes in gene expression, splicing, and 3’UTR processing. Interestingly, we found that successful meiosis transit was associated with RNA processing, and specific changes in protein isoforms were observed for genes involved in chromosome organization and spindle assembly.
MOLECULAR HUMAN REPRODUCTION
(2023)
Article
Urology & Nephrology
Margot J. Wyrwoll, Godfried W. van der Heijden, Csilla Krausz, Kenneth I. Aston, Sabine Kliesch, Robert McLachlan, Liliana Ramos, Donald F. Conrad, Moira K. O'Bryan, Joris A. Veltman, Frank Tuettelmann
Summary: Discovering the genetic causes of non-syndromic male infertility and linking them with clinical data is crucial for better understanding the condition. The International Male Infertility Genomics Consortium has developed a standardized vocabulary based on the Human Phenotype Ontology (HPO) to facilitate communication and improve the classification of male infertility. This work will contribute to the systematic recording of patients' phenotypes and the discovery of novel genetic causes for non-syndromic male infertility.
NATURE REVIEWS UROLOGY
(2023)
Review
Andrology
Csilla Krausz, Paulo Navarro-Costa, Martina Wilke, Frank Tuettelmann
Summary: Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is crucial for diagnosing azoospermic and severely oligozoospermic men. This article summarizes recent advances in this field and provides an update on the external quality assessment program offered by the European Academy of Andrology (EAA) and EMQN CIC. The gold-standard method for detecting AZF deletions is a basic multiplex PCR reaction followed by a deletion extension analysis.