ESPE Abstracts

Background: Being able to induce puberty through a short course of low-dose testosterone therapy in boys with constitutional delay of growth and puberty (CDGP) indicates a crucial interaction between testosterone and androgen receptor (AR) during the activation and maturation of the hypothalamic-pituitary-gonadal axis at the onset of puberty. Previous studies have indicated an inverse association between the CAG repeat length and the transactivation function o...

Background: Hereditary hypophosphatemic rickets (HHR) comprises a group of rare disorders characterized by renal phosphate wasting and impaired vitamin D metabolism. Numerous genetic defects can underlie this condition, with the X-linked dominant form (XLHR) being the most prevalent (1 in 20,000 individuals) resulting from inactivating variants in the PHEX gene.Aim: To characterize a large cohort of 99 argentini...

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.<...

Pediatric obesity is intimately related to the development of Metabolic Syndrome (MetS), which is a cluster of metabolic alterations associated with an increased risk of premature death. Some indexes of obesity, such as the Triponderal Mass Index (TMI), Body Mass Index (BMI), and Body Mass Index z-score (BMI-zscore), are used to identify children at high risk. This study aims to compare the discriminative ability of BMI, BMI and BMI-zscore to determine the risk of developing M...

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...

Introduction: Euvolemic hyponatremia is a typical feature of the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Excessive secretion of antidiuretic hormone (ADH) leads to activation of the type 2 vasopressin receptor (AVPR2) in the kidneys, which plays a role in concentrating urine. Etiologies of SIADH include cranial surgery, intracranial malignancy, meningitis-encephalitis, cerebral hemorrhage, other cerebral pathologies, pulmonary path...

Aim: The ideal intravenous (iv) fluid administration rate in the treatment of diabetic ketoacidosis (DKA) and its effect on metabolic normalization, changes in electrolyte levels and the development of complications such as cerebral oedema are controversial in the paediatric age group. We aimto present the results of a practical and modified DKA treatment protocol, which was prepared with reference to the International Society for Paediatric and Adolescent Dia...

Objective: The use of glucagon-like peptide-1 (GLP-1) agonists for the medical treatment of childhood obesity was approved by the FDA four years ago; however, clinical experiences are limited. In this context, our study aims to present the clinical data of obese adolescents receiving liraglutide treatment in our clinic, providing preliminary insights into its efficacy and potential benefits.Method: We retrospectively eva...