For three days Lübeck became the meeting pot for experts discussing the developments, challenges and aims in research of differences of sex development (DSD). With a variety of participants from five continents, the symposium positioned itself at the interface of research, medicine and psychosocial crosstalk. It brought a new focus to the current scientific perspective, with implications from the latest political decisions in sex testing in elite sports.
A multilayered view of science
From the start, the congress was strongly defined by its international collaboration and interdisciplinary exchange. Researchers, clinicians, psychologists and patient as well as queer community representatives contributed to a program shaped by continuous discussion.
The congress was organised by the local team of Olaf Hiort and Faisal Ahmed from Glasgow, in strong collaboration with the “International Registries for Rare Conditions Affecting Sex Development & Maturation” or short SDMregistries.
Many of the sessions were closely linked to social and political issues, thereby highlighting that DSD research takes place within a multifaceted framework that has been increasingly shaped over the course of its history. The programme demonstrated which pillars of research are involved and how important interdisciplinary exchange between biomedicine and humanities is. The I-DSD conference in Lübeck brought these various fields together with the aim of achieving the best possible outcomes for patients. Considering the history of research, it became clear which positive developments had emerged in both research and clinical practice over the years, whilst also highlighting where gaps still remain. Positive longitudinal developments are evident in surgical outcomes. While historical procedures aimed to align individuals with variations of sex characteristics (VSC) with a rigid medical binary, contemporary practice increasingly prioritizes the preservation of bodily diversity, ongoing research into underlying mechanisms, and the abandonment of outdated binary models. Concurrently, advancements in surgical techniques have contributed to improved outcomes for specific forms of VSC. Despite recent progress, the active integration of individuals with VSC into clinical and biological research remains insufficient. To bridge this gap, future research strategies must align with community-defined priorities and embed affected groups directly into the research lifecycle, thereby fostering iterative advancements in clinical standards and guidelines.
Building on this, discussions centred on new models and perspectives in research and clinical practice, whilst critical issues were not treated as taboo but were addressed appropriately. Novel cell models are introduced as innovative approaches designed to substantially reduce reliance on animal testing. In parallel, insights directly from clinical practice were presented, including a lecture on surgical outcomes in differences of sex development (DSD) titled ‚Long-term management after female genitoplasty‘ by Professor Anne-Marie Amies Oelschlager. She detailed her clinical experience, highlighting the critical role of establishing patient trust to facilitate open discourse on historically stigmatized topics.
A central theme emerged clearly, understanding DSD requires more than biological data alone. It requires integrating molecular insights, clinical experience, patient perspectives and policy considerations. Recent developments brought urgency to the discussion of how science is interpreted and applied.
Key insights of the scientific discussion on DSD
First, non-coding regions of the human genome are increasingly investigated to better understand, how regulatory variation may contribute to DSD, beyond previously known monogenic mutations. This shift reflects the growing recognition that some phenotypes cannot be fully explained by solid coding variants alone. Therefore, the challenge is to identify regulatory regions within the genomic complexity in the correct developmental context. This will require combining different techniques, such as transcriptomics, proteomics, spatial analysis and single-cell methods across relevant developmental time points because these regions are highly tissue-, stage- and cell-specific.
In this context, Andrew Sinclair jokingly noted that it took him „only“ 36 years to figure out how the SRY gene is regulated by enhancer 13, a regulatory element, while many open riddles remain to be solved.
Second, stem cell research is beginning to explore how cellular identity, tissue organisation and endocrine function might be better understood and potentially redirected. These approaches remain experimental and come with clear limitations, but they highlight how dynamic the field has become.
In her presentation, titled “Mimicking the testis: generating stem-cell derived organoids,” Prof. Dr. Nitzan Gonen demonstrated the generation of testicular organoids, evaluating whether stem-cell-derived “testis-in-a-dish” platforms constitute viable models and thereby underscoring the critical necessity of in vitro gonadal systems. Robust in vitro frameworks are of increasing relevance; they facilitate high-throughput pharmacological screening and the elucidation of key endocrine pathways and cellular interactions, effectively minimizing the reliance on primary tissue biopsies.
In particular, it became clear that combining cells to form highly organised tissues is not only a technical question, but also one of ethical frameworks.
Third, the link between genetics, sex and athletic performance remains highly debated. It became clear that relying on single markers such as the SRY gene is not enough. Current frameworks do not capture the full biological spectrum, which is particularly relevant in the context of sports regulations.
We need to support diversity and fairness in sport, while creating opportunities for future generations of athletes.
Beyond laboratory-based model development and the elucidation of complex, protracted translational pathways, the symposium offered critical insights into clinical practice. Notably, a dedicated session on the quality of care underscored the value of patient-reported outcomes and the retrospective analysis of medical errors. Complementing this perspective, a subsequent session focused on surgical outcomes, bridging the gap between theoretical research and daily clinical workflows while emphasizing the paramount importance of systematic clinical assessment and multidisciplinary patient management.
What really matters is data
One message was clear: data matters! The I-DSD registry was presented as one of the key achievements in DSD awareness. By continuously collecting clinical patient data, it provides the foundation for evidence-based research and hopefully supporting, future clinical guidelines. The team from Faisal Ahmed (University of Glasgow) presented the input structure as well as an overview of previously collected information.
Link to the registry website: https://sdmregistries.org/
This once again highlights how important it is to actively involve people with variations in sex characteristics (VSCs) not only in research but also in policy discussions and to give them a voice, so that research and clinical care can be designed in a meaningful and patient-centred way.
From research to real-life decisions
A central discussion point throughout the congress was how scientific knowledge translates into clinical practice. Especially in the context of surgical interventions, different perspectives were presented without a single unified answer.
Questions around timing, long-term outcomes and decision-making responsibilities are open to each case. The roles of patients, parents and clinicians need to be carefully balanced, and current approaches continue to evolve alongside emerging data. The need for evidence-based guidance as well as transparent discussion was emphasized across sessions.
Furthermore, hormone replacement therapy is variable across CAIS, CAH and DSD cases, showing that there isn’t a one-size-fits-all strategy. While the general therapeutic principles are established, management still requires careful adaptation to each case, with decisions guided by diagnosis, age, expected benefits and long-term follow-up.
The patient’s voice
DSD is not only a scientific field; it is a lived experience. Patient participation added an essential layer to the congress, bringing both supportive and critical perspectives.
The first conference day opened with a statement from a VSC stakeholder representative and member of the Scientific Advisory Board (SAB), representing both the patient communitiy and the scientific collaboration. Reflecting on their role at the interface between research and the VSC community, they described the long process of building trust and emphasized that meaningful dialogue is essential for aligning research with the needs and perspectives of people with lived experience.
As part of the programme, the audience also heard a statement from a patient’s lived experience with DSD, supported by medical care in Lübeck. The patient expressed gratitude for the personal support and care they had received in Lübeck.
These contributions highlighted progress in care, but also ongoing challenges, including gaps in knowledge, communication and societal awareness. They reinforced the importance of integrating patient voices into both research and clinical decision-making.
Beyond the lab & Awards
Throughout the three days, the congress maintained a high level of interaction. Presentations, posters and discussions continuously built on each other, creating a dynamic environment. Contributions from PhD students alongside established experts reinforced how emerging and experienced perspectives can complement each other to drive the field forward.
For early-career researchers, this setting provided direct feedback and a clearer understanding of how individual projects contribute to a larger context, from basic research to clinical application and societal impact.
In this context, best presentations were awarded in the following categories:
Category Awarded to
- Overall Best Oral Gunnar Paul Kordes, Münster, Germany
- Overall Best Poster Svenja Denker, Lübeck, Germany
- Diagnostics Magdalena Banaszak-Ziemska, Poznan, Poland
- Fundamental Mechanisms Tessa Kazubek, Lübeck, Germany
- Limited Resource Setting Noha Aly, Cairo, Egypt
- Medical Therapy Mikaela Frixou, Glasgow, UK
- Patient Advocacy Cecilia Kalsbeek, DSD Nederland
- Psychosocial Care Luise Landreh, Stockholm, Sweden
- Surgical Therapy Gabby Atlas, Melbourne, Australia
Bird’s-eye view: Interdisciplinary is the key
Overall, there is a growing responsibility to translate new knowledge into medical education, into public understanding and into policies that reflect biological variations rather than reduce it.
Data matters, but how we use it will define what comes next.
Interdisciplinary constitutes a foundational pillar in this context, synthesising disparate organisational structures and methodological approaches. Recognising that biomedical phenomena are seldom binary, the dimension of diversity in medical research, historically an underrepresented area of inquiry, is of critical importance. When diversity in clinical and scientific research intersects with interdisciplinary collaboration, it eases the generation of novel paradigms and highly efficacious models, advancing our understanding of physiological and pathological variations.
Lastly, we want to thank every participant for their contribution as well as for traveling across oceans to give insights, into their intensive projects and progress, it enlightened the event.
And a special thank you to thew organizers Olaf Hiort, Faisal Ahmed and colleagues of the SDMregistries team and the Lübeck team, especially Renate Wagner and Stephanie Latif, for this well organised, interdisciplinary and discussion-driven congress.
Tessa Kazubek & Lea Egli
