madman
Super Moderator
Supernumerary sex chromosome abnormalities – new developments and future trajectories - A summary of the 2022 3rd International Workshop on Klinefelter syndrome, XYY and Trisomy X
Claus H. Gravholt, Alberto Ferlin, Joerg Gromol, Anders Juul, Armin Raznahan, Sophie van Rijn, Alan D. Rogol, Anne Skakkebæk, Nicole Tartaglia, Hanna Swaab
Abstract
The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47, XYY syndrome was held in Leiden, the Netherlands, on September 12-14, 2022.
Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We focus on shortcomings in knowledge and therefore point out future areas for research.
We focus on the genetics and genomics of supernumerary sex chromosome syndromes with new data being presented. Most knowledge centers specifically on Klinefelter syndrome, where aspects of testosterone deficiency and the relation to bone, muscle, and fat were discussed, as was infertility and the treatment thereof. Both Trisomy X and 47, XYY syndrome are frequently affected by infertility.
Transitioning of males with Klinefelter syndrome was addressed, as this seemingly simple process is in practice often difficult.
It is now realized that neurocognitive changes are pervasive in all supernumerary sex chromosome syndromes, which was extensively discussed. New intervention projects were also described and exciting new data concerning this was presented.
Advocacy organizations were present, describing the enormous burden carried by parents when having to explain their child’s specific syndrome to most professionals whenever in contact with health care and education systems. It was also pointed out that most countries do not have healthcare systems that diagnose patients with supernumerary sex chromosome syndromes, thus pinpointing a clear deficiency in the current genetic testing and care models.
At the end of the workshop, a roadmap towards the development of new international clinical care guidelines for Klinefelter syndrome was decided.
Introduction
The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY was held in Leiden, the Netherlands, on September 12-14, 2022. This event followed successful prior workshops in 2010 in Copenhagen, Denmark (1) and in 2016 in Münster, Germany (2). It was organized by professor Hanna Swaab and her local organizing team at the University of Leiden, as well as an international scientific organizing team. Over three days participants presented the latest developments within the field and clinicians and researchers from many different fields met and exchanged ideas. The workshop expanded on the previous meetings by including research on Trisomy X and XYY syndromes. Representatives from different advocacy organizations also attended the workshop. Here we present a summary of topics from keynote speakers, however, must also acknowledge additional oral and poster presentations of new science on myriad topics, many from promising young investigators.
*Genetics of Supernumary Sex Chromosome Syndromes
*Klinefelter Syndrome, Hypogonadism, Bone, Muscle, and Fat Metabolism
*Klinefelter Syndrome in Transition
*Supernumerary Sex Chromosome syndromes, Fertility, and Testicular Function
*Supernumerary Sex chromosome Syndromes - Neurocognitive and Behavioural Development
*Impact of X and Y on life course
*Advocacy and Supernumerary Sex Chromosome Syndromes
New International Guidelines
At the closing of the meeting, a session on the need for new multidisciplinary care guidelines for Klinefelter syndrome was held. Alberto Ferlin, who, together with Michael Zitzmann, had chaired the European Academy of Andrology’s recent guidelines (40), presented these guidelines which are a major leap forward in generating a uniform platform for improved care for all males with Klinefelter syndrome. Shanlee Davis and Lise Aksglaede presented areas of care that also needed to be acknowledged and improved concerning the care of patients with Klinefelter syndrome and Claus H. Gravholt presented a roadmap towards a new international set of guidelines, with a focus on inclusion of all invested parties and societies around the world through a transparent process. The goal will be to bring together the Klinefelter syndrome medical and research community leaders to develop international, up-to-date, and evidence-based recommendations for medical care for boys and males with Klinefelter syndrome throughout their lifespan. The focus should be on all areas of Klinefelter syndrome, including fertility, neurocognition, psychological features, comorbidity, socio-economic aspects, and others, including the increased number of subjects with a diagnosis of Klinefelter syndrome following the prenatal screening. We discussed that advocacy groups should also be involved in the process. The guidelines should serve as a benchmarking tool, should inspire more research in areas that specifically are underserved, and should be endorsed by as many professional societies as possible.
During the session, it also became clear that there is a grave need for international guidelines in other areas, such as 47, XXX, and 47, XYY syndromes, but also the rarer supernumerary sex chromosome syndromes. Presently, it was deemed premature to develop such guidelines due to insufficient data, however, the processes from the Klinefelter syndrome project will serve as a model for future work for these conditions.
At the closing of the meeting, it was decided that the fourth international workshop on Klinefelter, 47, XXX, and 47, XYY syndrome is to be held in Padua, Italy in 2025. Alberto Ferlin is going to arrange this next workshop.
Claus H. Gravholt, Alberto Ferlin, Joerg Gromol, Anders Juul, Armin Raznahan, Sophie van Rijn, Alan D. Rogol, Anne Skakkebæk, Nicole Tartaglia, Hanna Swaab
Abstract
The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47, XYY syndrome was held in Leiden, the Netherlands, on September 12-14, 2022.
Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We focus on shortcomings in knowledge and therefore point out future areas for research.
We focus on the genetics and genomics of supernumerary sex chromosome syndromes with new data being presented. Most knowledge centers specifically on Klinefelter syndrome, where aspects of testosterone deficiency and the relation to bone, muscle, and fat were discussed, as was infertility and the treatment thereof. Both Trisomy X and 47, XYY syndrome are frequently affected by infertility.
Transitioning of males with Klinefelter syndrome was addressed, as this seemingly simple process is in practice often difficult.
It is now realized that neurocognitive changes are pervasive in all supernumerary sex chromosome syndromes, which was extensively discussed. New intervention projects were also described and exciting new data concerning this was presented.
Advocacy organizations were present, describing the enormous burden carried by parents when having to explain their child’s specific syndrome to most professionals whenever in contact with health care and education systems. It was also pointed out that most countries do not have healthcare systems that diagnose patients with supernumerary sex chromosome syndromes, thus pinpointing a clear deficiency in the current genetic testing and care models.
At the end of the workshop, a roadmap towards the development of new international clinical care guidelines for Klinefelter syndrome was decided.
Introduction
The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY was held in Leiden, the Netherlands, on September 12-14, 2022. This event followed successful prior workshops in 2010 in Copenhagen, Denmark (1) and in 2016 in Münster, Germany (2). It was organized by professor Hanna Swaab and her local organizing team at the University of Leiden, as well as an international scientific organizing team. Over three days participants presented the latest developments within the field and clinicians and researchers from many different fields met and exchanged ideas. The workshop expanded on the previous meetings by including research on Trisomy X and XYY syndromes. Representatives from different advocacy organizations also attended the workshop. Here we present a summary of topics from keynote speakers, however, must also acknowledge additional oral and poster presentations of new science on myriad topics, many from promising young investigators.
*Genetics of Supernumary Sex Chromosome Syndromes
*Klinefelter Syndrome, Hypogonadism, Bone, Muscle, and Fat Metabolism
*Klinefelter Syndrome in Transition
*Supernumerary Sex Chromosome syndromes, Fertility, and Testicular Function
*Supernumerary Sex chromosome Syndromes - Neurocognitive and Behavioural Development
*Impact of X and Y on life course
*Advocacy and Supernumerary Sex Chromosome Syndromes
New International Guidelines
At the closing of the meeting, a session on the need for new multidisciplinary care guidelines for Klinefelter syndrome was held. Alberto Ferlin, who, together with Michael Zitzmann, had chaired the European Academy of Andrology’s recent guidelines (40), presented these guidelines which are a major leap forward in generating a uniform platform for improved care for all males with Klinefelter syndrome. Shanlee Davis and Lise Aksglaede presented areas of care that also needed to be acknowledged and improved concerning the care of patients with Klinefelter syndrome and Claus H. Gravholt presented a roadmap towards a new international set of guidelines, with a focus on inclusion of all invested parties and societies around the world through a transparent process. The goal will be to bring together the Klinefelter syndrome medical and research community leaders to develop international, up-to-date, and evidence-based recommendations for medical care for boys and males with Klinefelter syndrome throughout their lifespan. The focus should be on all areas of Klinefelter syndrome, including fertility, neurocognition, psychological features, comorbidity, socio-economic aspects, and others, including the increased number of subjects with a diagnosis of Klinefelter syndrome following the prenatal screening. We discussed that advocacy groups should also be involved in the process. The guidelines should serve as a benchmarking tool, should inspire more research in areas that specifically are underserved, and should be endorsed by as many professional societies as possible.
During the session, it also became clear that there is a grave need for international guidelines in other areas, such as 47, XXX, and 47, XYY syndromes, but also the rarer supernumerary sex chromosome syndromes. Presently, it was deemed premature to develop such guidelines due to insufficient data, however, the processes from the Klinefelter syndrome project will serve as a model for future work for these conditions.
At the closing of the meeting, it was decided that the fourth international workshop on Klinefelter, 47, XXX, and 47, XYY syndrome is to be held in Padua, Italy in 2025. Alberto Ferlin is going to arrange this next workshop.
