IDSD2026 Poster Abstracts Poster Abstracts (93 abstracts)
The need for a global registry for charting the natural history of klinefelter syndrome
Malika Alimussina 1,2 , Joseph McElvaney 1,2 , Corinna Grasemann 3 , Jillian Bryce 2 , Lise Aksglaede 4,5 , Claudia Boettcher 6 , Lexi Breen 7 , Francesco Carlomagno 8,9 , Sabine Hannema 10 , Andrea Isidori 8,9 , Inas Mazen 11 , Anna Nordenstrom 12 , S Faisal Ahmed 1,2 & Angela K Lucas-Herald 1,2
1Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK; 2Office for Rare Conditions Registries, University of Glasgow, Glasgow, UK; 3University Medical Center Mainz of the Johannes Gutenberg-University,, Mainz, Germany; 4Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; 5International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; 6Paediatric Endocrinology, Diabetology and Metabolism, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern,; 7University of Lincoln, Lincoln, UK; 8Department of Experimental medicine, Sapienza University, 00161 Rome, Italy; 9Endocrine and Andrological Regional Rare Disease Centre—Endo-ERN centre “Azienda Ospedaliero-Universitaria Policlinico Umberto I,” 00161 Rome, Italy; 10Amsterdam UMC location Vrije Universiteit Amsterdam, Amsterdam, Netherlands; 11Cairo National Research Centre, Cairo, Egypt; 12Karolinska Institutet, Stockholm, Sweden
Introduction: Although Klinefelter Syndrome (KS) represents the most common sex chromosome aneuploidy, several gaps in knowledge persist regarding optimal management of boys and men with this condition. In particular, large international datasets describing the natural history of KS across the lifespan remain limited. Individuals with KS can have a diverse phenotype including endocrine, neurodevelopmental and cardiovascular manifestations.
Methods: Review of current cases of KS within the SDMRegistries.
Results: In January 2026, the SDMregistries platform that consists of dedicated registries for a wide range of rare conditions affecting sex development and maturation included a total of 10,658 individuals and of these, 777 (7%) individuals from 17 countries had karyotypes consistent with 47,XXY or mosaic forms containing an XXY cell line. Considering those with an 47,XXY alone, the median year of birth was 1994 (range 1939, 2025) resulting in a median current age of 32 (1, 87) years.
Conclusion: The SDMRegistries platform represents the largest contemporary cohort of individuals with KS of varying ages across the lifespan currently available worldwide, offering a unique opportunity to undertake collaborative natural history studies in KS through the development of a KS specific registry. Continued evaluation of existing data and identification of research priorities remain essential to improving long-term outcomes and quality of life for individuals with KS, with the likelihood of increased ease with the launch of the new I-KS module.
Volume 118
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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