ESPE Abstracts

Introduction and Purpose: Congenital Adrenal Hyperplasia (CAH) encompasses a group of genetic disorders arising from enzyme deficiencies crucial for the biosynthesis of cortisol and mineralocorticoids, resulting in decreased cortisol and increased androgen production. Standard treatment involves oral hydrocortisone administration 2-3 times daily. However, this treatment often fails to mimic the circadian rhythm and effectively suppress androgen production, esp...

Introduction and Purpose: STAT3 gain-of-function (GOF) syndrome is a rare monogenic autosomal dominant disease, caused by activating mutations in the STAT3 gene encoding the STAT3 protein, which is involved in the signal transduction pathway. Disruption of STAT3 structure leads to an early-onset multi-organ disease, characterized by lymphoproliferation, autoimmune cytopenias and growth retardation. Treatment includes immunosuppression, immunotherapy and alloge...

Introduction and Purpose: Differentiated thyroid cancer in children is rare. However, its incidence has increased recently. It differs from adult thyroid cancer in terms of clinical, molecular and pathologic features. Pediatric patients present with advanced disease at the time of diagnosis. They have an excellent prognosis and a 5-year survival rate that reaches 100%. The aim of this study was to record and statistically analyze data from children diagnosed w...