Explanipedia

Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)—A European cohort perspective Open

Julia Rohayem, Olivia Cunningham, Denise Williams, Joachim Wistuba, Liam McCarthy , et al. · 2025

Background WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early‐onset insulin‐depe…

Unraveling a Subgroup of Men With Unexplained Male Infertility—Men With Normogonadotropic Nonobstructive Azoospermia Open

Vanessa Schwarzkopf, Joachim Wistuba, Reinhild Sandhowe‐Klaverkamp, Sabine Kliesch, Jörg Gromoll , et al. · 2025

Context Nonobstructive azoospermia (NOA) constitutes male infertility with complete absence of sperm in the ejaculate. NOA can originate in testicular malfunction or in endocrine dysregulation. Elevated follicle-stimulating hormone (FSH) l…

Hyperthyroidism induced by paraneoplastic human chorionic gonadotropin (hCG) production from testicular tumours: a retrospective clinical and histopathological study Open

Julia Rohayem, Jan Idkowiak, Sebastian Huss, Thomas Balke, Hendrik Schürmann , et al. · 2024

Human chorionic gonadotropin (hCG) has structural similarities with thyroid-stimulating hormone (TSH) and may stimulate TSH receptors at higher concentrations. During pregnancy, placental hCG causes TSH suppression, contributing to hyperem…

Identification of two hidden clinical subgroups among men with idiopathic cryptozoospermia Open

Lena Charlotte Schülke, Joachim Wistuba, Verena Nordhoff, Hermann M. Behre, Jann‐Frederik Cremers , et al. · 2024

STUDY QUESTION Are there subgroups among patients with cryptozoospermia pointing to distinct etiologies? SUMMARY ANSWER We reveal two distinct subgroups of cryptozoospermic (Crypto) patients based on testicular tissue composition, testicul…

The future of embryoids from a reproductive science perspective Open

Michele Boiani, Bieke Bekaert, Michele Boiani, Julian K. Christians, Lynsey Cree , et al. · 2024

Male minipuberty in human and non-human primates: planting the seeds of future fertility Open

Alexander S. Busch, Juan Manuel Paturlanne, Nina Neuhaus, Joachim Wistuba, Stefan Schlatt , et al. · 2023

In brief Minipuberty is a transient activity period of the hypothalamic–pituitary–gonadal axis in the postnatal and infant period including surging serum concentrations of reproductive hormones. Increasing evidence points to an important r…

Interplay of spermatogonial subpopulations during initial stages of spermatogenesis in adult primates Open

Chiara Capponi, M Palazzoli, Sara Di Persio, Stefania Fera, Gustavo Spadetta , et al. · 2023

The spermatogonial compartment maintains spermatogenesis throughout the reproductive lifespan. Single-cell RNA sequencing (scRNA-seq) has revealed the presence of several spermatogonial clusters characterized by specific molecular signatur…

WWC2 expression in the testis: Implications for spermatogenesis and male fertility Open

Verena Höffken, Sara Di Persio, Sandra Laurentino, Margot J. Wyrwoll, Nicole Terwort , et al. · 2023

The family of WWC proteins is known to regulate cell proliferation and organ growth control via the Hippo signaling pathway. As WWC proteins share a similar domain structure and a common set of interacting proteins, they are supposed to fu…

Effects of castration and sterilization on baseline and response levels of cortisol—A case study in male guinea pigs Open

Sylvia Kaiser, Annika Korte, Joachim Wistuba, Maximilian Baldy, Andreas Wissmann , et al. · 2023

An uncontrolled reproduction of animals in human hands should be avoided. To meet this goal, animals are widely castrated, i.e., the gonads are completely removed. Since the gonads are the most important source of sex hormones, this is a s…

New perspectives on fertility in transwomen with regard to spermatogonial stem cells Open

Jennifer Dabel, Florian Schneider, Joachim Wistuba, Sabine Kliesch, Stefan Schlatt , et al. · 2022

Objective Germ cells of transwomen are affected by gender-affirming hormone therapy (GAHT). Fertility will be lost after surgical intervention; thereby, fertility preservation becomes an increasingly imortant topic. This study investigated…

Transcriptome analyses in infertile men reveal germ cell–specific expression and splicing patterns Open

Lara Marie Siebert-Kuss, Henrike Krenz, Tobias Tekath, Marius Wöste, Sara Di Persio , et al. · 2022

The process of spermatogenesis—when germ cells differentiate into sperm—is tightly regulated, and misregulation in gene expression is likely to be involved in the physiopathology of male infertility. The testis is one of the most transcrip…

Analysis of copy number variation in men with non‐obstructive azoospermia Open

Margot J. Wyrwoll, Rebecca Wabschke, Albrecht Röpke, Marius Wöste, Christian Rückert , et al. · 2022

Background Recent findings demonstrate that single nucleotide variants can cause non‐obstructive azoospermia (NOA). In contrast, copy number variants (CNVs) were only analysed in few studies in infertile men. Some have reported a higher pr…

O-210 Cluster analysis reveals two hidden subgroups among patients with cryptozoospermia Open

Sara Di Persio, Lena Charlotte Schülke, Joachim Wistuba, Jann‐Frederik Cremers, Sabine Kliesch , et al. · 2022

Study question Can cryptozoospermic patients be sub classified based on clinical parameters? Summary answer Cryptozoospermic patients can be subdivided in two subgroups based on the histological phenotype of their testicular tissues, testi…

Stage-specific gene and transcript dynamics in human male germ cells Open

Lara Marie Siebert-Kuss, Henrike Krenz, Tobias Tekath, Marius W oumlste, Sara Di Persio , et al. · 2022

Cell differentiation processes are highly dependent on cell stage-specific gene expression, including timely production of alternatively spliced transcripts. One of the most transcriptionally rich tissues is the testis, where the process o…

Single-cell RNA-seq unravels alterations of the human spermatogonial stem cell compartment in patients with impaired spermatogenesis Open

Sara Di Persio, Tobias Tekath, Lara Marie Siebert-Kuss, Jann‐Frederik Cremers, Joachim Wistuba , et al. · 2021

Serum and intratesticular inhibin B, AMH, and spermatogonial numbers in trans women at gender‐confirming surgery: An observational study Open

Florian Schneider, Jennifer Dabel, Reinhild Sandhowe‐Klaverkamp, Nina Neuhaus, Stefan Schlatt , et al. · 2021

Background Anti‐Müllerian hormone and inhibin B are produced by Sertoli cells. Anti‐Müllerian hormone secretion indicates an immature Sertoli cell state. Inhibin B serves as a marker of male fertility. Identification of markers reflecting …

Testicular function in males with infantile nephropathic cystinosis Open

Julia Rohayem, Dieter Haffner, Jann‐Frederik Cremers, Sebastian Huss, Joachim Wistuba , et al. · 2021

STUDY QUESTION Do males with the rare lysosomal storage disease infantile nephropathic cystinosis (INC) have a chance of biological fatherhood? SUMMARY ANSWER Cryostorage of semen could be an option for approximately 20% of young males wit…

EGR4-dependent decrease of UTF1 is associated with failure to reserve spermatogonial stem cells in infertile men Open

Sara Di Persio, Tobias Tekath, Lara Marie Siebert-Kuss, Jann‐Frederik Cremers, Joachim Wistuba , et al. · 2021

Despite the high incidence of male infertility, about 70% of infertile men do not receive a causative diagnosis. To gain insights into the regulatory mechanisms governing human germ cell function in normal and impaired spermatogenesis (cry…

Testicular blood supply is altered in the 41,XXY* Klinefelter syndrome mouse model Open

Joachim Wistuba, Cristin Beumer, Ann-Sophie Warmeling, Reinhild Sandhowe‐Klaverkamp, Jörg Stypmann , et al. · 2020

Hypergonadotropic hypogonadism is a major feature of Klinefelter syndrome (KS), assumed to be caused by testicular hormone resistance. It was previously shown that intratesticular testosterone levels in vivo and Leydig cell function in vit…

Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility Open

Margot J. Wyrwoll, Şehime Gülsün Temel, Liina Nagirnaja, Manon S. Oud, Alexandra M. Lopes , et al. · 2020

Challenging human somatic testicular cell reassembly by protein kinase inhibition –setting up a functional in vitro test system Open

M Mincheva, Joachim Wistuba, Christoph Brenker, Stefan Schlatt · 2020

41,XXY* male mice: An animal model for Klinefelter syndrome Open

Joachim Wistuba, Cristin Beumer, Ralph Brehm, Jörg Gromoll · 2020

Klinefelter syndrome (KS, 47,XXY) is the most frequent male chromosomal aneuploidy resulting in a highly heterogeneous clinical phenotype associated with hormonal dysbalance, increased rate of co‐morbidities, and reduced lifespan. Two hall…

Does the FSHB c.‐211G>T polymorphism impact Sertoli cell number and the spermatogenic potential in infertile patients? Open

Maria Schubert, S. Kaldewey, Lina Pérez Lanuza, Henrike Krenz, Martin Dugas , et al. · 2020

Background A genetic variant within the FSHB gene can deviate FSH action on spermatogenesis. The c.‐211G>T FSHB single nucleotide polymorphism impacts FSHB transcription and biosynthesis due to interference with the LHX3 transcription fact…

Development and Disease-Dependent Dynamics of Spermatogonial Subpopulations in Human Testicular Tissues Open

Joana M. D. Portela, Laura Heckmann, Joachim Wistuba, Andrea Sansone, Ans M. M. van Pelt , et al. · 2020

Cancer therapy and conditioning treatments of non-malignant diseases affect spermatogonial function and may lead to male infertility. Data on the molecular properties of spermatogonia and the influence of disease and/or treatment on sperma…

Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility Open

Margot J. Wyrwoll, Şehime Gülsün Temel, Liina Nagirnaja, Manon S. Oud, Alexandra M. Lopes , et al. · 2019

Male infertility affects ∼7% of men in Western societies, but its causes remain poorly understood. The most clinically severe form of male infertility is non-obstructive azoospermia (NOA), which is, in part, caused by an arrest at meiosis,…

High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting Open

Sandra Laurentino, Laura Heckmann, Sara Di Persio, Xiaolin Li, Gerd Meyer zu Hörste , et al. · 2019

The age-related transcriptome of the retinal pigment epithelium of the macular-bearing Callithrix jacchus Open

Michael Böhm, Karina Hadrian, Stefan Schlatt, Joachim Wistuba, Solon Thanos , et al. · 2019

Expression and function of Cathepsin B in the retinal pigment epithelium Open

Karina Hadrian, M. J. Lever, Stefan Schlatt, Joachim Wistuba, Solon Thanos , et al. · 2019

Ageing in men with normal spermatogenesis alters spermatogonial dynamics and nuclear morphology in Sertoli cells Open

Eva Pohl, Verena Höffken, Stefan Schlatt, Sabine Kliesch, Jörg Gromoll , et al. · 2019

Background Ageing in men is believed to be associated with fertility decline and elevated risk of congenital disorders for the offspring. The previous studies also reported reduced germ and Sertoli cell numbers in older men. However, it is…

Complete spermatogenesis in intratesticular testis tissue xenotransplants from immature non-human primate Open

Elissavet Ntemou, Prashant Kadam, Dorien Van Saen, Joachim Wistuba, Rod T. Mitchell , et al. · 2018

This project was funded by the ITN Marie Curie Programme 'Growsperm' (EU-FP7-PEOPLE-2013-ITN 603568) and the scientific Fund Willy Gepts from the UZ Brussel (ADSI677). D.V.S. is a post-doctoral fellow of the Fonds Wetenschappelijk Onderzoe…

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