DIGEST OF THE 62 ANNUAL MEETING OF THE EUROPEAN SOCIETY OF PEDIATRIC ENDOCRINOLOGY: ORPHAN DISEASES
DOI:
https://doi.org/10.32782/umv-2025.1.5Keywords:
rare diseases, orphan diseases, personalized treatment, European Society of Pediatric EndocrinologyAbstract
Genetic discoveries have significantly improved our understanding of the mechanisms responsible for a cluster of rare diseases associated with endocrine disruption and have contributed to the development of new preventive and therapeutic strategies. Medical innovation is increasingly focusing on providing care based on individual patterns of genetic predisposition. At the end of 2024, the 62nd Annual Meeting of the European Society of Pediatric Endocrinology was held in Liverpool, UK, from 16 to 18 November. One of the main slogans of the event was to put the management of rare diseases associated with endocrine disruption into action. ESPE 2024 was an unparalleled opportunity to network and share invaluable knowledge with hundreds of stakeholders in the rare endocrine disease community. Special attention at the plenary lectures of this event was devoted to the genomics of rare diseases, at the symposia – to highlighting the latest information on growth disorders, mineral disorders, promising methods of treating skeletal diseases, sexual development, the presentation of the Andersen Award for research on the FDX1 missense mutation, which causes congenital adrenal hyperplasia with 11β-hydroxylase deficiency and vitamin D-resistant bone rickets, as well as the presentation of a description of a new human disorder – short stature caused by QSOX2 deficiency, impaired gastrointestinal motility, and immune dysfunction.
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