ESPE Abstracts

Background: Our study aimed to determine the molecular characterization of thyroid nodules and cancer in childhood and investigate the genotype-phenotype relationship.Methods: The pre-postoperative clinical follow-up features and genetic characteristics of 62 patients were evaluated. Next-generation sequencing (NGS) was used to investigate common variants in thyroid lesions with sufficient tissue in the pathology archive...

Introduction: The most common non-metabolic complication of insulin pump therapy is set occlusion, and the literature on factors associated with occlusion is limited. This study aims to investigate the factors influencing set occlusion.Methods: A total of 52 patients with type 1 diabetes using insulin pumps were included in the study. A 36-item questionnaire related to set occlusion was administered to the healthcare per...

Introduction: The clinical spectrum of nonfunctioning pituitary adenomas (NFPA), which are rare in childhood, varies from asymptomatic to hypopituitarism and/or severe compression-associated symptoms. We present the diagnosis, follow-up, and treatment of pediatric NFPA cases evaluated in a pituitary referral center.Methods: Data of patients aged <18 years and diagnosed with NFPA between 2002 and 2024 were reviewed ret...

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 and Aim: Adrenal lesions (AL) in childhood present with a variety of clinical features, and their evaluation can be challenging. Diagnosis and follow-up should be evaluated on a case-by-case basis. Adrenal hemorrhage (AH) can be seen in infants due to sepsis and prematurity. Adrenal incidentalomas (AI) are detected in imaging performed without suspicion of adrenal disease. We aimed to present the characteristics of the cases evaluated for AL.<...

Introduction: Many genes have now been identified in which rare, high penetrant variants cause obesity, accounting for ~10% of children with severe obesity.Aim: To describe clinical characteristics, genetics, and associated comorbidities in pediatirc endogenous obesity due to rare genetic obesity syndromes.Methods: After excluding patients with obesity due to endocrine disturbances...

Subclavian artery disruption sequence explains the development and association of Poland, Klippel-Feil, and Moebius anomalies with the hypothesis of vascular etiology. Herein, the coupling of Klippel-Feil-Poland-Moebius Syndromes and the diagnostic process in a patient who presented to our outpatient clinic with breast asymmetry will be discussed. At the age of 11 years and 10 months, the patient presented with breast asymmetry (smaller left breast-hypotelia). The patient&apos...

Introduction: Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans. About 80% of KS patients have 47,XXY karyotype, while rest of the patients can have mosaicism or other numeric or structural sex chromosome abnormalities. Tall stature is one of the hallmarks of KS and it is thought to be due to supernumerary X chromosome leading to SHOX gene overdosage. Deletion of SHOX gene, on the contrary, has been r...

Introduction and Aim: The aim of this study was to investigate whether autoimmune Hashimoto’s thyroiditis (HT) increases the incidence of non-alcoholic fatty liver disease (NAFLD). In addition, the relationship between autoimmunity and the following factors was evaluated: Body Mass Index (BMI), body parameters measured by Bioelectric Impedance Analysis (BIA), and metabolic syndrome parameters.Methods: 43 newly diagnosed euthyroid girls with HT (14.4...

Background: Approximately 10-15% of small for gestational age (SGA) newborns are at risk of having subnormal growth and persistent short stature. It is postulated that a large amount of persistent short stature results from genetic abnormalities, which are commonly characterized by dysmorphic features and developmental disorders.Aim: To uncover the genetic etiology of syndromic short stature children born SGA.<p clas...