ESPE2024 Poster Category 2 Late Breaking (107 abstracts)
Development of Age-Adapted Modules for Standardized Clinical Data Collection in individuals with Klinefelter Syndrome
Joline Surau 1 , Corinna Grasemann 1 , Claus H. Gravholt 2 , Chris Breen 3 , Lise Aksglaede 4 , Malika Alimussina 5 , Jens Bauer 1 , Claudia Boettcher 6 , Jillian Bryce 5 , Francesco Carlomagno 7 , Sabine E. Hannema 8 , Angela Lucas-Herald 5 , Andrea Isidori 7 , Inas Mazen 9 , Anna Nordenstroem 10 & S. Faisal Ahmed 5
1Ruhr-University Bochum, Bochum, Germany. 2Aarhus University, Aarhus, Denmark. 3University of Lincoln, Brigg, United Kingdom. 4Department of Growth and Reproduction, Copenhagen University Hospital, Copenhagen, Denmark. 5University of Glasgow, Glasgow, United Kingdom. 6University Children's Hospital, Julie-von-Jenner Haus, Paediatric Endocrinology and Diabetology, University of Bern, Bern, Switzerland. 7Sapienza University of Rome, Rom, Italy. 8Amsterdam UMC, Amsterdam, Netherlands. 9National Research Centre, Cairo, Egypt. 10Karolinska Institutet, Stockholm, Sweden
Klinefelter Syndrome (KS) affects an estimated 1 in 500-750 male births, yet over 50% of cases remain undiagnosed. Initially characterized as a condition with post-pubertal gonadal failure, KS is now recognized to involve numerous associated signs, symptoms, and comorbidities, underscoring the need for a multidisciplinary care approach. However, the clinical care of people with KS is variable and is rarely supported by good evidence. To better understand the natural history and impact of clinical management and treatments in rare and heterogeneous conditions like KS, standardized assessment across countries and centers is essential. Comprehensive diagnostic work-up both at diagnosis and throughout follow-up appointments is important, as KS evolves over time and new symptoms or comorbidities may emerge, influencing general health. Standardized data collection of the phenotype and clinical and psychological outcomes across the age span will not only promote benchmarking of care but also facilitate global research. Within the SDM-registries platform that has over 9,000 cases, there are now 750 cases of KS and a consortium of clinical and patient experts in the field of KS have developed age-adapted templates for structured, longitudinal follow-up that could be used for these cases as well as others. The modules are tailored for different age groups — infancy, childhood, adolescence, and adulthood — and provide guidance for professionals caring for individuals with KS and their families. The contents of these age specific modules are now ready for wider consultation following which, they can be used for standardized follow-up as well as in natural history registries that collect real world data.
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