ESPE Abstracts

Introduction & Aim: Adrenoleukodystrophy (ALD) stems from ABCD1 gene mutations, affecting very long-chain fatty acid (VLCFA) metabolism, leading to VLCFA accumulation in tissues. The variable clinical spectrum of ALD underscores the need for early detection to optimize management with pre-emptive treatments. Hematopoietic stem cell transplantation (HSCT) offers curative potential, while symptom management aims to slow progression. We present cases...

Introduction: Pituitary adenomas, while rare in the pediatric population, pose significant challenges in terms of diagnosis and treatment despite their generally benign nature. The aimof this study was to elucidate the clinical features, hormonal profiles, and therapeutic interventions employed in the management of prolactinoma in a pediatric cohort.Methods: This study included children <18 years diagnosed with prolac...

Keywords: diabetes, MODY, atypicalIntroduction: Type 1 Diabetes (T1D) is the most common cause of diabetes in childhood, but Type 2 Diabetes (T2D) and monogenic diabetes has attracted increasing attention recently. Cases with atypical diabetes may be challenging for diagnosis, treatment and follow-up management. The purpose of this study was to present the characteristics of atypical diabetes cases from a tertiary referr...

Introduction: Prader-Willi Syndrome (PWS) is characterized by severe neonatal hypotonia and feeding difficulty with subsequent hyperphagia, hypogonadism, and short stature. PWS has a prevalence of 1 in 10,000-30,000. Obesity-related complications occur from early childhood onwards. Liraglutide is a glucagon-like peptide-1 (GLP-1) analog that reduces appetite and body weight and improves glycemic control. Scarcity of oxytocin-producing neurons in the hypothalam...

Introduction: Numerous genetic defects have been identified in relation to congenital hypothyroidism (CH). In recent years, with the increased accessibility of molecular genetic analysis, CH etiology is better understood. We evaluated patients followed with a diagnosis of CH who were diagnosed using next-generation sequencing analysis.Methods: The study included 19 cases (10 females,52.6%). Patients with thyroid gland <e...

Introduction: Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. In most cases, history, physical examination, and adjunctive biochemical, imaging, and/or molecular genetic testing will ultimately reveal the diagnosis.Methods: In this single-center study, demographic, clinical, endocrinological data of patients <19 years old who were followed up with the...