ESPE Abstracts

Objective: Obesity is a multifactorial genetic disorder. Monogenic obesity, explaining 5-13% of early-onset cases, is often associated with hyperphagia and reduced energy expenditure. Syndromic obesity involves additional clinical features such as developmental delay, hypogonadism, and sensorial hearing deficits. This study aims to enhance the understanding and management of patients with syndromic obesity by evaluating their anthropometric, laboratory, and cl...

Introduction: The etiology of hyperandrogenism is diverse and diagnosis is based on history, clinical findings, reliable measurement of steroid hormones and genetic analyzes. In the electrochemiluminescence immunoassay (ECLIA) method, the presence of various endogenous compounds and the use of certain pharmaceutical agents may cause interference in results, on the other hand liquid chromatography-mass spectrometry (LC-MS/MS) method allows measurement of 17 adr...

Carney Complex (CNC) is a rare genetic disorder characterized by multiple endocrine and nonendocrine neoplastic manifestations across various organ systems, primarily driven by mutations in the PRKAR1A gene. The most common clinical effects are on the adrenocortical axis. This study seeks to dissect the clinical heterogeneity observed in CNC patients with PRKAR1A mutations, emphasizing the adrenocortical axis and its impacts on patient outcomes.C...

Objectives: American Thyroid Association (ATA) and European Thyroid Association (ETA) published guidelines about evaluation, treatment and follow-up. Despite these recommendations, published data on this subject is insufficient. This study aims to investigate the outcome of pediatric DTC and factors predicting the response to therapy in pediatric DTC.Methods: Medical records of 46 children diagnosed with DTC, between 200...