Ref. 5298 - Study on rare endocrine-metabolic diseases

Rare endocrine-metabolic diseases represent a heterogeneous group of disorders, predominantly of genetic origin, characterized by alterations in endocrine function and/or metabolism, constituting a major healthcare challenge. Their high clinical complexity, phenotypic variability, and frequent multisystemic presentation often make timely recognition difficult, leading to diagnostic and therapeutic delays. The project aims to contribute to the early identification of suggestive signs and symptoms, to the diagnostic framework through an integrated clinical, biochemical, and genetic approach, and to the definition of therapeutic strategies, while organizing long-term follow-up for patients. Furthermore, the management of rare endocrine-metabolic diseases requires establishing a close multidisciplinary collaboration with geneticists, pediatricians, internists, neurologists, nutritionists, and other specialists, in order to guarantee personalized and continuous care.